Ikramullah Khan, Syed Afaq Ahmed, Kiren Mohsin.
Ellis-van Creveld syndrome. A case report.
J Pak Assoc Derma Jan ;16(4):239-42.

A 15-year-old girl reported to Dermatology OPD with complaints of short height, abnormal teeth and nails, short fingers and toes and an extra digit of each hand (she had extra digit of right hand surgically removed 2 years back). Her parents were first cousins. There was no family history of such disorder. On examination, she was 4 feet tall with normal facial and trunk development but small distal extremities especially fingers and toes. She had bilateral ulnar polydactyly, dystrophic nails, lumbar lordosis, genu valgum. Her teeth were small, peg shaped; the palate was high arched, the sulcus between upper lip and gum was obliterated while the short upper lip was bound down by multiple frenula. Hair and skin was normal and she had normal sweating. The auscultatory findings of heart were normal. Rest of the systemic examination was normal. A clinical diagnosis of Ellis-van Creveld syndrome was made. Her renal and liver function tests, echocardiography and abdominal ultrasound were normal. Radiologically, her tibia was short with bilateral exostosis and hypoplastic lateral tibial condyles; x-ray hands showed short middle and terminal phalanges, ulnar polydactyly and fused hammate and capitate bones. X-ray feet also showed short phalanges while X-ray spine was normal. These findings supported our initial diagnosis.

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