Indian Pediatrics 2002; 39:1058

Melnick - Fraser Syndrome

An 11 year old girl presented with deafness, anemia and dysmorphic facies. She had a long narrow face with severe microtia of right ear, deformed, hypoplastic left ear and right sided facial nerve palsy (Fig. 1). She also had a high arched palate with absent uvula and had a nasal twang. X-ray abdomen (KUB) showed bilateral stag-horn calculi. The combination of ear anomaly, renal malformation and facial features are diagnostic of Branchio-oto-renal syndrome, also called Melnick Fraser Syndrome.

Fig. 1. Shows long narrow face with microtia of right ear, hypoplastic left ear and right sided facial nerve palsy

It is an autosomal dominant disorder with gene localised to long arm of chromosome 8. The syndrome includes deafness and ear anomalies (microtia, hypoplastic pinna, malformed and narrow exteranl auditory canal). Renal anomalies range from minor dysplasia to bilateral renal agenesis with renal failure. Long narrow face, constricted palate, bifid uvula, facial paralysis are other abnormalities described.

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