Ellis-Van creveld′s syndrome (a case rreport)

Abstract

A 13 years old male patient had stunted growth, bilateral polydactyly, fusion of capitate and hamate on right side, incomplete duplication of 1st metacarpal at its proximal end, poorly ossified epiphyses of lower end of radius & ulna, valgus deformity of right knee, conical shape of tibial epiphyses, nonossified fibular epiphyses & a small bony exostoses from medial end of right tibia, abnormal teeth and nail of hand. Also there was evidence of left to right shunt in the heart. Oral frenulae, pseudocleft of upper lip were also noticed.

An unusual bifid first metacarpal

“…It is most common duplication in white and oriental population, occurring in 1:3000 births. It is usually unilateral 7. Only 9 out of 70 patients in Wassel's series had bilateral involvement.…”

“…There is a marked difference in the site and function of the two thumb parts because of the duplication of soft tissues 5. Bifid metacarpal and phalanges with their own epiphysis (duplication of metacarpal and phalanges) with or without congenital anomalies have been reported 67…”

“… 5 Bifid metacarpal and phalanges with their own epiphysis (duplication of metacarpal and phalanges) with or without congenital anomalies have been reported. 6 7 …”

Ellis-van Creveld syndrome: report of two cases

“…Very few cases have been reported from India. [4,5] We here present a report of two siblings with features consistent with EVC syndrome.…”

Ellis–Van Creveld syndrome in siblings: A rare case report

“…[ 5 ] Polydactyly is always present with typical postaxial hexadactyly of the hands and in few cases feet. [ 6 ]…”