CONGENITAL MALFORMATIONS OF THE ORAL FACIAL REGION

CONGENITAL MALFORMATIONS OF THE ORAL FACIAL REGION. CLEFT LIP. TIED LIPS AND TONGUE. SHALLOW VESTIBULE. STATISTICS, CLASSIFICATION, ETIOLOGY, CAUSES. THE CLINIC, DIAGNOSIS, SURGICAL TREATMENT. COMPREHENSIVE REHABILITATION OF PATIENTS.

CONGENITAL CLEFT PALATE. STATISTICS. CLASSIFICATION. ETIOLOGY, CLINICAL MANIFESTATIONS, DIAGNOSIS, SURGICAL TREATMENT. COMPREHENSIVE REHABILITATION OF CHILDREN WITH CLEFT PALATE. PROBLEMS OF FEEDING CHILDREN WITH CLEFT.

 

Synonyms: Facial Defects / Deformities, Craniofacial Deformities

What are Face Defects / Deformities?

Face Defects / Deformities, also known as Facial Defects / Deformities are deformities in the growth of the skull and facial bones. These are congenital deformities (present at birth) and can be corrected by reconstructive surgery. Face Defects / Deformities can be Craniofacial Deformities (affecting the skull), Maxillofacial Deformities (affecting the upper jaw) and Dentofacial Deformities (affecting the bony structure and teeth).

What are the different types of Face Defects / Deformities?

• Cleft Lip – Cleft Lip or Hare Lip is a birth defect where the upper lip is split or separated either in the middle, on one side or on both the sides.

• Cleft Palate – Cleft Palate is a condition when there is a cleft or a gap in the palate or the hard part of the roof of your mouth

• Facial Cleft – This is a rare Face Defect / Deformity where a bone or skin in the middle of the face may be missing.

• Craniosynostosis – This is a congenital Face Defect where the sutures (fibrous joints) of the skull bones fuse inappropriately and prematurely.

• Plagiocephaly – In this type of Face Defect / Deformity, the forehead and the brow stop growing. This Face Defect / Deformity produces a flattening of the forehead and the brow on the affected side while the forehead on the opposite side tends to be excessively prominent.

• Brachycephaly – This type of Craniofacial Deformity refers to a wide and high forehead region to be wide and high and the eyes may appear wide apart.

• Trigonocephaly – In this type of Face Defect / Deformity, the forehead looks pointed, like a triangle, with closely placed eyes. This Face Defect occurs due to closure of a suture that runs from the top of the head down the middle of the forehead, toward the nose.

• Scaphocephaly – This type of Face Defect / Deformity occurs when the suture that runs front to back, down the middle of the top of the head fuses prematurely. As a result, the shape of the skull becomes long and narrow. The skull is long from front to back and narrow from ear to ear.

• Facial Palsy – This occurs due to paralysis of the facial nerve. In this kind ofFace Defect, there is loss of control over facial expressions.

• Chin Deformity – In this type of Face Defect / Deformity the chin is unusually small (mirognathia) or may be unusually large (macrognathia)

• Upper Jaw (Maxillary) Deformity – One of the most common type of Upper Jaw (Maxillary) Deformity is called vertical maxillary excess. In this Facial Defect,there is excess bone of the upper jaw, the face appears long, the chin is recessed and the nose large in the profile view.

• Lower Jaw (Mandibular) Deformity – There are two most common mandibular deformities; mandibular excess (protrusion) and mandibular deficiency (retrusion).

• Deformational Plagiocephaly – This refers to asymmetrical shape of the head from repeated pressure to the same area of the head. This kind of Craniofacial Deformity usually results from keeping the infant’s head in one position for long periods of time or it also be due to torticollis which is persistent tilt of the head to one side.

• Vascular Malformations – Also known as lymphangioma, anteriovenous malformations or vascular gigantism. Vascular malformations are present at birth and increase in size as the child grows.

• Hemangiomas – Also unknown as port wine stain, strawberry Hemangiomas and salmon patch. These are also called birth marks and mostly are present at birth (congenital).

• Hemifacial Microsomia – In this Face Defect, the soft tissues and bones of the ear, mouth and jaw areas on one side of the face are under developed.

• Microtia – In this Facial Deformity, the ear on one or both sides does not grow properly and may be accompanied by atresia of the ear canal.

How are Face Defects / Deformities treated?

The optimal time to seek surgical treatment for your child to repair Face Defects is before one year of age since the bones are still very soft and easy to work with. Surgical intervention may be necessary at a much earlier age depending upon the severity of Craniofacial Deformity. In some cases, surgery may have to be performed in stages to obtain optimum results. Your child’s healthcare team will comprise of several health professionals (Craniofacial Team) with different expertise to assess and monitor your child’s progress as he/she grows up. The Craniofacial Team will educate you and your family on how to best care for your child at home, and will also outline specific problems that require immediate medical attention. It is important to note that Craniofacial Deformities do not exist in isolation and may be accompanied by other congenital abnormalities.

• Cleft Lip – The surgery for Cleft Lip is performed as a single procedure which also closes the nostril deformity. Bilateral Cleft Lip sometimes requires two surgeries. Depending on how extensive the birth defect is, surgery for Cleft Lip can take anywhere from 2 – 3 hours.

• Cleft Palate – This attempt at restoration of normal anatomy of mouth would hopefully enable your child to eat and speak properly over time. The operation to repair Cleft Palate may take 2 – 3 hours and your child will be required to stay in the hospital for 3 – 4 days.

• Craniosynostosis – The goal of surgical treatment to treat this Face Defect is to reduce the pressure in the head and correct the deformities of the face and skull bones. Following the operation to correct this Facial Deformity, it is common for the child to have a turban-like dressing around his / her head. The head may be reshaped by a non-surgical method i.e. a cranial molding helmet which allows growth in areas which appear flattened, and restricts growth in areas which appear prominent.

• Hemengiomas – Hemangiomas can sometimes be quite disfiguring and may require treatment which may consist of steroid medications, embolization of blood vessels or removal by laser or surgical excision. Following surgical excision, your surgeon may perform Skin Grafting or use the technique ofSkin Flap Grafting to reconstruct the damaged tissue.

• Vascular Malformations – Facial Defects due to Vascular Malformations can be treated either by laser therapy (capillary malformations or port wine stains), embolization (arterial malformations) or by direct injection of a sclerosing, (clotting) medicine (venous malformations).

• Deformational Plagiocephaly – This Craniofacial Deformity can be treated non-surgically. This can be done by alternating you child’s sleep position (re-positioning) may resolve this problem. If the deformity is severe and cannot be resolved by re-positioning, then a remodeling band or helmet may be recommended. the helmet is made of a hard outer shell and soft inner lining and will help in correcting this deformity by applying mild pressures to inhibit growth in the prominent areas and allowing for growth in the flat regions.

• Hemifacial Microsomia – For severely underdeveloped lower jaw, reconstruction using a bone graft taken from the ribs may be recommended. The external ear and the soft tissue of the cheeks would be reconstructed to attain facial symmetry.

• Chin Deformity – This deformity can be treated by osseous genioplasty, or bony chin advancement, which is a simple procedure that moves a patient’s own chin. Variety of facial implants can also be used to correct this Facial Deformity. Unusually large chins can be treated by bone reduction.

What will my child’s Craniofacial Team comprise of?

Craniofacial team will comprise of pediatrician, pediatric plastic surgeon with expertise in Craniofacial Deformities, neurosurgeon, pediatric dentist, orthodontist, speech therapist, E.N.T. specialist, eye specialist, hearing specialist, psychiatrist, social worker and genetic counselor. Your child’s craniofacial team will play a very important role in his care, education and rehabilitation that would be on-going depending on his or her needs.

What is Distraction Osteogenesis procedure to treat Face Defects / Deformities?

Distraction Osteogenesis (DO) – Also known as Bone Expansion. The method of Distraction Osteogenesis stimulates natural growth of new bone by stretching eventually leading to widening and lengthening of upper and lower jaw. Distraction Osteogenesis involves making small cuts in your jaw bone and applying forces by a distraction apparatus (DO device) which is attached to the teeth. The new bone will be formed (to fill the gaps in between the cuts) in response to the forces applied by this apparatus. The DO device is adjusted periodically until the desired lengthening and widening of the jaw bones is achieved. The device stays in place for about six to eight weeks to ensure that the gap is filled-in with stable new bone. It is removed in the operating room under sedation. New bone grows at the rate of one millimeter per day. Bone distraction requires two surgeries, one to implant the device and another to remove the device after the desired bone growth is achieved. It takes about six weeks for the new bone to heal and consolidate, and the device usually leaves only small scars. Distraction Osteogenesis is performed in 2 stages; first stage is implantation of the DO device and the second stage is removal of DO device.

What is the outcome of procedure(s) to treat Face Defects / Deformities?

The procedure(s) to treat Face Defects / Deformities have a good success rate provided they are diagnosed and treated in a timely fashion. A multidisciplinary approach to the treatment of Face Defects / Deformities has improved the management strategies and thus the outcomes. The multidisciplinary team provides care and support for the medical, physical, and psychosocial needs of the child and the family.

B . R . A . N . D . of corrective treatments for Face Defects / Deformities

Benefits of corrective treatments for Face Defects / Deformities

• With the availability of state-of-art computer imaging system, you will have a better idea of the results that might be achieved by surgical intervention. A formal treatment plan will be put together utilizing the skills and expertise of craniofacial team. Corrective treatments for Face Defects / Deformities will most definitely improve the esthetics of your child’s face, it will also improve breathing and feeding problems that are associated with Face Defects / Deformities.

Risks of corrective treatments for Face Defects / Deformities

Like all other Cosmetic & Plastic Surgery procedures, corrective treatments forFace Defects / Deformities involves the risk of complications including:

• Asymmetry of your child’s face – This a common problem when one side of your mouth and nose do not match the other side. In such a case, a revision surgery is performed to try and match both the sides of the face as closely as possible.

• Incomplete repair of the Face Defects / Deformities – A second operation or revision surgery may be required for complete correction.

• Infection of the incision site

• Allergic reaction to anesthesia

• Bleeding, swelling, bruising and delayed healing – It is normal to have some bruising and oozing of bloody discharge from the face areas which will soon subside.

Alternatives to corrective treatments for Face Defects / Deformities

• The treatment options discussed above are the best available for children born with Craniofacial Deformities.

Now or Never

• Face Defects / Deformities can range from mild abnormalities of the teeth to extensive deformities involving the entire face and skull. Sophisticated reconstructive surgical techniques yield tremendously gratifying and outstanding aesthetic and functional results.

Decision to have corrective treatments for Face Defects / Deformities

• Each child’s and family’s needs are unique for corrective treatments for Face Defects / Deformities and the treatment plans are customized to meet all of a child’s physical and emotional needs i.e. from special dietary or language requirements, to educational or emotional considerations.

Rehabilitating patients with maxillofacial defects is one of the most difficult therapies of the stomatognathic system. Maxillary defects being the most common of these defects need to be rehabilitated to restore the lost form, function and speech. Prosthetic reconstruction of these defects may be made with the help of obturator prosthesis. The present case report describes the steps in the fabrication of hollow bulb obturator prosthesis.

Maxillofacial defects may be a result of congenital malformations, trauma or surgical resection of tumors. The primary objective of rehabilitating these defects is to eliminate the disease and to improve the quality of life for these individuals.1 Among various maxillofacial defects, intra oral defects in the form of clefts and opening into the palate are very common. Several methods have been advocated for reconstructing these defects. The use of an obturator prosthesis is one of them. According to the glossary of prosthodontic terms obturator is defined as prosthesis used to close a congenital or an acquired tissue opening, primarily of hard palate and or contiguous alveolar structures. The name obturator is derived from the Latin verb “obturare” which means close or to shut off.2

Effective obturation of maxillary defects produces sufficient separation of the oral and nasal cavity to improve the quality and intelligibility of speech. It also enhances masticatory function, deglutition and esthetics. The weight of maxillary obturator prosthesis is often a factor to be considered with respect to retention and comfort of the patient. Hence it is desirable to design light weight prosthesis. Prosthetic intervention should occur at the time of surgical resection and will be necessary for the remainder of the patients life.3,4

This clinical report describes the fabrication of hollow bulb obturator prosthesis for a patient with a maxillary defect after undergoing partial maxillectomy procedure.

CASE REPORT:

A nineteen year old male patient reported to the Department of Prosthodontics with a swelling on the right side of the palate. The patient was referred from the oncology department after being diagnosed for squamous cell carcinoma. A surgical resection of the tumor was planned which was to be followed with prosthetic rehabilitation. (fig 1)

Diagnostic impressions of maxillary and mandibular arches were made for the fabrication of a pre surgical obturator, which could act as a surgical stent. The patient was then operated and the tumor was resected. The surgical resection also included a part of the palate and the following teeth 7, 16, 15.

The surgical obturator was worn for a period of 7 days, following which the patient was given a series of interim obturators until a satisfactory healing of the tissues was achieved. After this definitive obturator prosthesis was planned for the patient.

Definitive prosthesis:

A perforated stock tray was selected for making the preliminary impression. The stock tray was modified using impression compound corresponding to the area of the defect. Primary impression of the maxillary arch was made using putty reline technique and the mandibular arch was recorded using alginate.

The primary casts were obtained from the impression. These casts were surveyed and the necessary mouth preparation was performed on the patient before making secondary impression. Cast partial denture design of the prosthesis was finalized and the framework was fabricated. (fig 2) Then the framework was tried in the patient’s mouth to check for the fit.

At this stage the framework was used as a tray to record the defect area using putty reline technique. A pick up impression of the remaining natural teeth were made using alginate. The impression was then poured following which the framework was separated from the cast. At this stage a denture base was fabricated and the jaw relations were recorded. The missing teeth were arranged and try in procedure was performed. (fig 3)

Fabrication of the hollow bulb:

The trial denture was then sealed to the master cast. After application of the separating media on the cast, the counter portion was poured. Since the defect area was too large, a conventional flask could not be used. Hence the base portion of the cast as well as the counter portion was made thicker using boxing wax. (Fig 4). This was followed by the dewaxing procedure.

After separation of the counter parts, a layer of modeling wax was adapted in to the defect area, which provided the space for heat cure resin to flow between the bulb and the defect portion of the cast. Three tissue stops were created in the wax which prevented the tissue ward movement of the prosthesis in to the defect. Auto polymerizing clear acrylic resin was adapted over the wax to fabricate a shim (fig 5). The wax was eliminated and the shim was filled with sugar crystals. A lid was made and sealed to the shim to make it a bulb. A small escape vent was created in the bulb using a straight fissure bur. It was then placed in a bowl of water to dissolve the sugar crystals. Hence making the bulb hollow.4 (fig 6)

The hollow bulb was placed back into the defect. A clearance of 1mm was seen between the outer layer of the bulb and the defect, which was to be occupied by the heat cure resin. The framework and the bulb were placed back on the cast and checked for any interference.

Following this separating medium was applied on to the cast and the counter portion. Heat cure resin was adapted in to the defect area after which the hollow bulb and the framework were placed back in to their respective position on the cast. The heat cure resin was also packed in to the mould space and the two parts were clamped. Together this unit was subjected to the regular curing cycle.

 

 

Following deflasking procedures, the prosthesis was trimmed, finished, polished and inserted in to the patient’s mouth after minor corrections. (fig 7 & 8)

Post insertion instructions were given and the patient was taught how to use the prosthesis. The patient was called after 24 hours for the check up. Recall visits were also scheduled after 1 week, 1 month, 3 and 6 months.

Discussion:

A hollow bulb obturator was fabricated for the patient mentioned in this case report. After surgical resection, the defect could be categorized under Armany class II situation.5,6,7 Based on this the cast partial framework was designed with the required components.

The regular palatal strap major connector was modified in order to achieve a greater support from the palate, as the defect was large. The metal framework provided good retention, support and stability. The longevity of the prosthesis could be attributed to the strength of the metal. Further, the thermal conductivity of the metal made it sensitive to the temperature changes and the patient showed better functional acceptance to the prosthesis.8

A hollow bulb design for the obturator was chosen in order to reduce the bulk of the prosthesis which in turn made it light weight and more comfortable for the patient. The hollow bulb further added resonance, thus improving the clarity of the speech.9,10 The present prosthesis not only improved the speech and function but also provided better comfort for the patient.

Summary:

The present case report showed the prosthetic rehabilitation of a partial maxillectomy patient using a hollow bulb definitive obturator. It involved the fabrication of a cast partial denture framework onto which a hollow bulb prosthesis was made. The prosthesis rehabilitated the patient in terms of function by providing better masticatory efficiency, phonetics by adding resonance to the voice hence improving the clarity of speech and also improved the esthetics of the patient. The use of a hollow bulb design improved the comfort of the patient by decreasing the weight of the prosthesis.

Congenital Malformations, Nose

Introduction

Developmental anomalies of the nose encompass a diverse group of conditions. In this article, embryologic development of the nose and nasal cavities are discussed, as well as anomalies of the nose to include nasal dermoids (eg, gliomas, encephaloceles, nasal clefts, proboscis lateralis, arhinia, polyrrhinia, nasopharyngeal teratoma, epignathus). Choanal atresia is discussed in a separate chapter.

Embryology of the Nose

Development occurs through 3 distinct phases as follows: (1) the preskeletal phase, marked by development of mesenchymal swellings surrounding external nasal placodes; (2) the chondrocranial phase, which provides the nose with cartilaginous framework; and (3) the ossification phase, marked by influx of cellular elements and fusion of nasal skeletal elements.

During the third week of development, ectodermal cells in the caudal portion of the developing embryo proliferate and migrate medially and caudally to form the notochordal process. Concurrently, modified ectodermal cells invaginate in the midline of the caudal primitive streak. They then migrate between ectodermal and endodermal layers. Also during the third week, the ectoderm and endoderm of the cephalic region become adherent, forming the buccopharyngeal membrane, which represents the forward boundary of the primitive foregut. At the end of the third week, a midline neural groove develops along the dorsal surface of the embryo. This groove then thickens, deepens, and forms the neural tube, the cephalic end of which becomes the primary brain vesicles.

By days 20-30, mesodermal tissue condenses on either side of the midline and becomes the paraxial mesoderm (in the cephalic region). At this point, the buccopharyngeal membrane disappears, and the primitive nasal cavity forms.

External nose

At approximately 4.5 weeks, the centrally located stomodeum appears, which forms the center of the face. The first pair of pharyngeal arches surrounds the stomodeum. The stomodeum becomes surrounded by 5 mesenchymal prominences (ie, the maxillary and mandibular swellings, as well as the frontal prominence). The nasal placode, which arises from surface ectoderm, develops on the lateral aspects of the frontal prominence.

During the fifth week of gestation, medial and lateral swellings form from the mesodermal layer and surround the nasal placode, which continues to invaginate as the olfactory pit. As the invagination continues, a tissue ridge surrounding each pit forms the nasal prominences. Prominences on the outer edge of the pits are the lateral nasal prominences; those on the inner aspect are the medial nasal prominences. The depression separating the maxillary swelling from the lateral nasal prominences is known as the nasolacrimal groove, which eventually gives rise to the nasolacrimal apparatus. The middle of the external nose develops from caudal progression of the medial nasal folds, which fuse to form the frontonasal process. Three paired centers of chondrification form the lateral nasal cartilages. Nasal septum bony formation over the cartilaginous capsule occurs during the eighth week.

Internal nose

Development requires enlargement of the nasal cavity, degeneration of existing tissues, and generation of mesenchyme-derived structures. Anterior nares form by the recession of nasal pits into the paraxial mesoderm. The primitive nasal cavity initially is a single chamber. Ectoderm of the nasal sac contacts ectoderm of the mouth roof, thereby forming the oronasal septum. Attenuation of this structure leads to creation of the oronasal membrane separating the nasal cavity from the pharynx. The oronasal membrane then undergoes degeneration, resulting in choanae formation. Subsequent development of the secondary palate and elongation of primitive nasal chambers results in final definitive nasal chambers, separated by the nasal septum.

The nasal septum begins development at week 5 and forms from the frontonasal process, which grows in an anterior-to-posterior direction, eventually joining with the tectoseptal expansion, a median ridge of mesenchyme. The septum continues growing posteriorly, ultimately uniting with palatine processes. Fusion of the frontonasal process, tectoseptal expansion, and palatine processes results in separation of the oral and nasal cavities, as well as right and left nasal chambers. The nasal septum subsequently undergoes chondrification and ossification of its various constituents.

Beginning at 6.5 weeks, lateral nasal wall development occurs. The inferior concha appears above the palatine process. As the nasal cavity heightens, ectodermal folds appear in the ethmoid region and give rise to superior, middle, and inferior concha.

Anterior to these folds appear agger nasi cells and the uncinate process, future site of the bulla ethmoidalis and hiatus semilunaris. Paranasal sinuses develop as diverticula of the lateral nasal walls, extending into maxillary, ethmoid, frontal, and sphenoid bones. Their development concludes during puberty.

Classification of nasal deformities

Losee et al (2004) developed a comprehensive classification scheme dedicated to congenital nasal anomalies.¹This was based on a retrospective review of 261 patients with congenital nasal anomalies. Congenital nasal deformities were classified into the following 4 categories:

• Type I – Hypoplasia and atrophy (represents paucity, atrophy, or underdevelopments of skin, subcutaneous tissue, muscle, cartilage, and/or bone)

• Type II – Hyperplasia and duplications (represents anomalies of excess tissue, ranging from duplications of parts to complete multiples)

• Type III – Clefts (The comprehensive and widely used Tessier classification of craniofacial clefts is applied.)

• Type IV – Neoplasms and vascular anomalies (Both benign and malignant neoplasms are found in this category.)

Craniofacial syndromes

Nasal hypoplasia is seen with many craniofacial syndromes. Apert syndrome often manifests as bilateral narrowing of the bony nasal cavity with choanal stenosis or atresia. Fraser syndrome, a rare autosomal recessive disorder, manifests as cryptophthalmos and nasal anomalies, including a broad nose with midline groove, a depressed nasal bridge, hypoplastic nares with colobomas, choanal stenosis, and a beaklike appearance. Binder syndrome, or nasomaxillary hypoplasia, is characterized by midface retrusion, hypoplasia of the anterior nasal spine, a short columella, and an obtuse nasofrontal angle. Craniofacial microsomia and Goldenhar syndrome can both affect the nose with varying degrees of hypoplasia.

Nasal Dermoids

Etiology and embryology

Nasal dermoids are epithelial-lined cavities or sinus tracts with variable numbers of skin appendages, including hair follicles, sebaceous glands, and eccrine glands. They constitute the most common congenital nasal anomaly. Nasal dermoids may arise from clusters of epithelium trapped during ectodermal processes, or they may signify failure of ectodermal extensions into the fetal nasal septum to disappear as the septum fuses and ossifies.

The most widely accepted etiologic theory centers on the prenasal space and fonticulus, which forms between the anterior wall of the nasal skeleton and the frontal and nasal bones. Should skin remain attached to fibrous tissues of the nasal capsule in the prenasal space or the fonticulus, epidermal appendages (or other components) may be encroached upon and surrounded by the developing bones, thereby forming a tract. Dural attachments also may exist, creating a tract between the nasal skin and the dura that passes through the prenasal space (toward the foramen cecum) or fonticulus.

Clinical presentation and management

These nasal lesions account for 3.7-12% of dermoids in the head and neck and 1.1% of all body dermoids. Nasal dermoids generally occur in the midline, most commonly on the nasal dorsum, in the form of a nasal pit or nasal mass. They may manifest anywhere from the columella base to the glabella. Dermoids may be single or multiple and can manifest as a nasal mass or a fistulous tract. They often manifest with hair and sebaceous material (with or without drainage). They typically manifest within the first month of life, and 73% are diagnosed in the first year of life (see the images below).

A patient with a congenital nasal dermoid.

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A patient with a congenital nasal dermoid.

 

A patient with encephalocele.

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A patient with encephalocele.

 

This MRI depicts a dermoid. The dermoid is intracranial but separate from the brain. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat. New York: Oxford UP; 1997, with permission).

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This MRI depicts a dermoid. The dermoid is intracranial but separate from the brain. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat. New York: Oxford UP; 1997, with permission).

 

Dermoids may extend intracranially and should be differentiated from encephaloceles based on their lack of transillumination and inability to enlarge with crying. Diagnose with CT scan or MR imaging. Biopsy is contraindicated. If infection ensues, it usually is limited to the sinus tract or cyst. Orbital/periorbital cellulitis, osteomyelitis, meningitis, or brain abscess may occur, however.

Several radiologic findings may be noted (eg, fusiform swelling within the nasal septum, widening of the nasal vault, bifid septum, glabellar destruction, bony proliferation above cyst level, large ethmoidal cystic spaces). Enlargement of the foramen cecum with crista galli involvement or deformity may allude to intracranial extension. CT scan reveals the bony defect, and MRI differentiates the dermoid element from brain tissue. Treatment involves complete cyst and sinus tract excision. If an intracranial cyst exists, a combined craniofacial approach with neurosurgical consultation is required. Recurrence is attributed to incomplete excision.

A unique and unusual extension of the dermoid tract into the frontal sinus has been reported. It required an osteoplastic flap to access the frontal sinus floor, combined with a local midline nasal incision at the sinus tract origin.

Gliomas

Etiology and embryogenesis

Gliomas are unencapsulated collections of glial cells situated outside the CNS. Possible theories of development include the following: (1) sequestration of glial tissue of the olfactory bulb entrapped during cribriform plate fusion; (2) ectopic neural tissue cells; (3) pinched encephalocele; and (4) inappropriate closure of the anterior neuropore (fonticulus frontalis), with failure of mesoderm to enter the region, resulting in inadequate bone formation.

Clinical presentation and management

Gliomas usually present in childhood as intranasal (30%), extranasal (60%), or combined masses (10%). Unlike dermoids, they do not necessarily occur in midline or attach to sinuses or skin. Gliomas form a noncompressible mass that does not increase in size on Valsalva testing and does not transilluminate. Extranasal gliomas are usually located at glabella level, but they may present laterally.

Intranasal gliomas are associated most often with middle turbinate or higher structures and may mimic nasal polyps. Combined intra/extranasal gliomas have a typical dumbbell shape with a connecting band. Fifteen percent of gliomas connect with the dura, either through the foramen cecum or through the fonticulus. Patients may present with unilateral nasal obstruction, unilateral nasal mass, epistaxis, or cerebrospinal rhinorrhea. Dystopia canthorum or hypertelorism is more common with extracranial lesions. Simultaneous bilateral digital compression on the internal jugular veins does not lead to distension of the mass (Furstenberg sign). Diagnosis is assisted with CT scan, which shows the bony defect, and with MR imaging, which highlights the soft tissue components. Avoid biopsy. Management consists of surgical excision of the mass.

Extranasal gliomas can be approached through standard surgical excisions. Intranasal masses that do not extend intracranially may be approached through lateral rhinotomy. Gliomas that extend intracranially require neurosurgical intervention. Avoid recurrences by removal of all gliomatous tissue.

Encephaloceles

Etiology and embryogenesis

Encephaloceles signify the herniation of neural tissue through defects in the skull. They may contain meninges (meningocele) or brain matter and meninges (encephalomeningocele), or they may communicate with a ventricle (encephalomeningocystocele). Encephaloceles have an etiology similar to that of gliomas. No familial pattern has been demonstrated with these lesions. Association with other diseases (eg, Ehlers-Danlos syndrome, frontonasal dysplasia), however, may suggest a genetic component.

Clinical presentation and management

Twenty percent of all encephaloceles occur in the cranium. Of those, 15% are nasal. Nasal encephaloceles can be divided into 2 types: sincipital (60%) and basal (40%).

Further, the sincipital form is divided into subtypes as follows: (1) the nasofrontal (40%), which exits the cranium between the nasal and frontal bones; (2) the nasoethmoidal (40%), which exits between the nasal bones and nasal cartilages; and (3) the nasoorbital (20%), which exits through a defect in the maxilla frontal process. Sincipital encephaloceles typically present as soft compressible masses over the glabella.

The basal form is divided into subtypes as follows: (1) the transethmoidal, which exits through the cribriform plate into the superior meatus, extending medial to the middle turbinate; (2) the sphenoethmoidal, which exits through the cribriform plate, between the posterior ethmoid cells and sphenoid, to present in the nasopharynx; (3) the sphenoorbital, which enters the orbit via the superior orbital fissure and may produce exophthalmos; and (4) the transsphenoidal, which herniates in the nasopharynx via defects posterior to the cribriform plate. Basal encephaloceles may remain hidden (clinically) for years.

Both sincipital and basal forms expand with the Valsalva maneuver, have a positive Furstenberg sign, and transilluminate, thereby distinguishing them from gliomas. Patients may have a history of rhinorrhea or recurrent meningitis and may have a broad nose or hypertelorism (dystopia canthorum). Broekman et al (2008) described a case of intranasal encephalocele associated with Beckwith-Wiedemann syndrome (BWS).²This rare congenital syndrome is characterized by gigantism, macroglossia, exophthalmos, postpartum hypoglycemia, and multiple midline defects such as omphalocele. Nasal masses in these patients should be carefully differentiated, as complications might be severe.

Both CT scan and MRI are useful in diagnosis, the former for degree of bony defect and the latter for degree of soft-tissue herniation (see the image below).

CT scan demonstrating encephalocele.

CT scan demonstrating encephalocele.

 

Biopsy is strongly contraindicated due to risk of infection and meningitis. Treatment involves surgical excision with repair of the bony defect. Often a craniotomy is necessary to approach the encephalocele.

Nasal Clefts

Failure of frontal processes to develop appropriately or to merge with other facial processes results in various malformations.

Numerous facial cleft classification systems exist. They include DeMyer, Sedano, and Tessier classifications (see the images below).

This drawing shows soft tissue clefts in the Tessier classification system.

This drawing shows soft tissue clefts in the Tessier classification system.

 

This drawing shows bone clefts in the Tessier classification system.

This drawing shows bone clefts in the Tessier classification system.

 

Nasal clefting may take the form of medial or lateral clefts. A rare entity, it often is associated with other congenital anomalies, or it constitutes manifestation of a syndrome, such as frontonasal dysplasia or Goldenhar-Gorlin syndrome, among others.

Nasal clefts can vary from simple groove to complete separation of either side of the nose (median cleft), or they can present as a large furrow involving the medial canthus and ipsilateral alum (lateral cleft; see the image below). Depending on the defect’s severity, reconstruction may be warranted.

The photograph shows a child with mediaasal cleft. Note the marked hypertelorism and pronounced separation of the nostrils.

The photograph shows a child with mediaasal cleft. Note the marked hypertelorism and pronounced separation of the nostrils.

 

Proboscis Lateralis and Supernumerary Nostrils

Etiology and embryogenesis

Proboscis lateralis (also known as congenital tubular nose) is an extremely rare anomaly in which the external nose fails to develop on one side and is replaced by a tubular structure emanating from the medial canthus. The condition is caused by the developmental failure or absence of medial and lateral nasal processes, resulting in fusion of the maxillary process with the contralateral nasal process.

Supernumerary, or accessory, nostrils are a very rare type of congenital nasal anomaly. They can be associated with such malformations as facial clefts and can be unilateral (most cases) or bilateral. The accessory nostril may communicate with the ipsilateral nasal cavity.

Clinical presentation and management

Proboscis lateralis is characterized by the absence of the nasal cavity and paranasal sinuses on one side. The nasolacrimal duct ends blindly. Proboscis lateralis may be associated with other congenital anomalies, particularly those of the CNS. Surgical treatment involves rerouting of the nasolacrimal duct and excision of the tubular deformity. Reconstruction may be a staged procedure, commencing during adolescence. Surgery for supernumerary or accessory nostrils is recommended with an early excision of the fistulous or blind tract or with a fistulorhinostomy, when the proximal portion is not accessible with a local skin flap to cover the defect.

Arhinia, Polyrrhinia, Nasopharyngeal Teratoma, and Epignathus

Arhinia

Arhinia is the congenital absence of the external nose, nasal cavities, and olfactory apparatus.

Etiology and embryogenesis

This extremely rare entity is often associated with anomalies of the ocular and central nervous systems. It has been associated with inversion and trisomy of chromosome 9 (see the image below).

The photograph shows an infant with arhinia. (From Navarro-Vila et al, J Craniomaxillofac Surg 19:56, 1991, with permission).

The photograph shows an infant with arhinia. (From Navarro-Vila et al, J Craniomaxillofac Surg 19:56, 1991, with permission).

 

Clinical presentation and management

Arhinia constitutes a rare congenital malformation of the mid face, with fewer than 25 cases previously reported. Phenotypic expression ranges from hyporhinia, manifested by the lack of external nasal structures, to total arhinia, characterized by a failure of formation of the external nose, nasal airways, olfactory bulbs, and olfactory nerve. Arhinia is clearly evident at birth, with only a depression located between the eyes (at the normal position of the external nose). Since neonates are obligate nasal breathers, respiratory distress is usually noted, but not always. The maxilla is underdeveloped, and a high arched palate is common. In 2009, Thornburg et al studied prenatal diagnosis of total arhinia. Obstetric ultrasound revealed flattened midface without a distinguished nose and a prominent upper lip.³

Surgical repair is staged, beginning at an approximate age of 5 years. Final revision surgery is performed near puberty. The operation creates new nasal cavities and an external nose (by use of local flaps and autologous cartilage grafts or prosthetic devices). Vertical distraction osteogenesis represents a modality for elongation of the mid face. Midfacial distraction generates essential bone and soft tissues, which both improve facialaesthetic proportionality and facilitate superior reconstructive efforts.

Polyrrhinia

Two completely formed noses characterize this extremely rare anomaly. Duplication of media nasal processes during embryogenesis is believed to cause polyrrhinia. Management consists of excision of the medial halves of each nose.

Nasopharyngeal Teratoma and Epignathus

Teratomas are very rare lesions that contain tissues originating from the 3 embryological germ layers. Occasionally, teratomas display differentiation into organ systems (eg, limbs). Such a teratoma is known as an epignathus.

Etiology and embryogenesis

Theories abound to explain teratoma occurrence. Some of the more accepted theories follow: (1) Teratomas arise from pathogenic development of germ cells (possibly explaining ovarian or testicular occurrence but not head and neck); (2) totipotent cells may escape embryological organization and later form teratomas; and (3) teratoma is a different embryo growing inside the body of its twin (conjoined twin theory).

Clinical presentation and management

The newborn usually presents with severe acute respiratory distress requiring endotracheal intubation or tracheotomy (see the images below). In smaller lesions, feeding difficulties may be the only presenting symptom. Investigations must rule out intracranial extension. CT scan and MRI are needed to determine the sphenoidal bony defect and the relationship to the brain and meningeal coverings.

This photograph shows an infant with epignathus. Endotracheal intubation was essential to maintain the airway. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat, New York: Oxford UP; 1997, with permission).

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This photograph shows an infant with epignathus. Endotracheal intubation was essential to maintain the airway. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat, New York: Oxford UP; 1997, with permission).

 

This plain radiograph of the epignathus in Picture 7 depicts bone and teeth formation. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat, New York: Oxford UP; 1997, with permission).

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This plain radiograph of the epignathus in Picture 7 depicts bone and teeth formation. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat, New York: Oxford UP; 1997, with permission).

 

Most nasopharyngeal teratomas have no intracranial connections, and they are excised through a transoral approach. The nasopharyngeal component is typically removed easily because of the usual presence of cleft palate. If an intracranial component exists, a craniofacial approach is necessary. Prognosis is usually good, and malignant transformation has not been reported.

The ex utero intrapartum treatment (EXIT) procedure is a new technique that establishes the fetal airway while uteroplacental circulation is still maintained.⁴

Multimedia

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Media file 1: A patient with a congenital nasal dermoid.

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A patient with a congenital nasal dermoid.

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Media file 2: A patient with encephalocele.

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A patient with encephalocele.

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Media file 3: This MRI depicts a dermoid. The dermoid is intracranial but separate from the brain. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat. New York: Oxford UP; 1997, with permission).

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This MRI depicts a dermoid. The dermoid is intracranial but separate from the brain. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat. New York: Oxford UP; 1997, with permission).

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Media file 4: CT scan demonstrating encephalocele.

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CT scan demonstrating encephalocele.

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Media file 5: The photograph shows a child with mediaasal cleft. Note the marked hypertelorism and pronounced separation of the nostrils.

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The photograph shows a child with mediaasal cleft. Note the marked hypertelorism and pronounced separation of the nostrils.

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Media file 6: The photograph shows an infant with arhinia. (From Navarro-Vila et al, J Craniomaxillofac Surg 19:56, 1991, with permission).

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The photograph shows an infant with arhinia. (From Navarro-Vila et al, J Craniomaxillofac Surg 19:56, 1991, with permission).

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Media file 7: This photograph shows an infant with epignathus. Endotracheal intubation was essential to maintain the airway. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat, New York: Oxford UP; 1997, with permission).

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This photograph shows an infant with epignathus. Endotracheal intubation was essential to maintain the airway. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat, New York: Oxford UP; 1997, with permission).

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Media file 8: This plain radiograph of the epignathus in Picture 7 depicts bone and teeth formation. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat, New York: Oxford UP; 1997, with permission).

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This plain radiograph of the epignathus in Picture 7 depicts bone and teeth formation. (From TL Tewfik, VM Der Kaloustian, eds. Congenital Anomalies of the Ear, Nose and Throat, New York: Oxford UP; 1997, with permission).

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Media file 9: This drawing shows soft tissue clefts in the Tessier classification system.

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This drawing shows soft tissue clefts in the Tessier classification system.

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Media file 10: This drawing shows bone clefts in the Tessier classification system.

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This drawing shows bone clefts in the Tessier classification system.