All are seen in treacher collin syndrome except
Ans. is 'd' i.e., Choanal atresia Treacher collins syndrome It is rare condition that presents several craniofacial deformities of different levels. This is a congenital malformation involving the first and second branchial arches. The disorder is characterized by abnormalities of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures with coloboma of the lower eyelids and cleft palate. Impoant clinical findings are :- Antimongoloid palpebral fissures Malformed malleus and incus (normal stapes) Coloboma of lower lid Conductive deafness Hypoplasia of mandible (micrognathia) and molar bones Cleft palate Malformed pinna and meatal atresia It is the most common benign neoplasm of nasopharynx. It is a highly vascular tumor and blood supply of the tumor most commonly arises from the internal maxillary aery. Juvenile nasopharyngeal angiofibroma (JNA) occurs almost exclusively in males. Female with Juvenile nasopharyngeal angiofibroma (JNA) should undergo genetic testing. Onset is most commonly in the second decades, the range is 7-19 years. The exact cause is unknown. As the tumour is predominantly seen in adolescent males in the second decade of life, it is thought to be testosterone dependent. The most common site is posterior pa of nasal cavity close to the margin of sphenopalatine foramen. The tumor stas adjacent to the sphenopalatine foramen. Large tumors are frequently bilobed or dumbbel shaped, with one poion of tumor filling the nasopharynx and the other poion extending to the pterygopalatine fossa. Clinical features Symptoms depend on spread of tumour to nasal cavity, paranasal sinuses, pterygomaxillary fossa, infratemporal fossa, cheek, orbits (through inferior orbital fissure), cranial cavity (most common site is middle cranial fossa). Nasal obstruction (80-90%) is the most common symptom, especially in the initial stages. This results in denasal speech, hyposmia, broadening of nasal bridge. pontaneous profuse & recurrent epistaxis is the second most common symptom Otalgia, conductive hearing loss, serous otitis media, due to eustachian tube obstruction. Pink or purplish mass obstructing one or both chonae in nasopharynx. Tumour in the orbit causes : proptosis; and frog-face deformity; diplopia and diminshed vision. Tumour in infratemporal fossa can cause trismus and bulge of parotid. II, III, IV, V, VI cranial nerve can be involved. Splaying of nasal bones. Swelling of cheek and fullness of face. Diagnosis and treatment Contrast CT is the investigation of choice. Biopsy should be avoided as it can cause severe bleeding. Surgical excision is the treatment of choice.
Conductive deafness
Cleft palate
Mandibular hypoplasia
Choanal atresia