Mesomelic dwarfism

Abstract

Tibial aplasia with polydactyly of hands and feet is a rare congenital anomaly, affecting both sexes with reported prevalence between 5 and 19 per 10000 live births(1). The molecular basis of this defect is unknown, and autosomal dominant mode of inheritance (2,3,4,5,6) with variable expressivity is usually postulated.The first case, more or less similar to the aforesaid phenotype, was reported in 1915 by Werner(7) in a 20 yrs old woman in her 6th months of pregnancy; and in 1918 Davidson(8) reported the second case, in a two yrs old baby. This type of congenital anomaly, reported by Werner and Davidson, is commonly referred to as Werner's syndrome(7), or, Werner mesomelic syndrome(7), or, Eaton-McKusick syndrome(9). The first familial case of Werner type was reported by Reber (1968)(10), and second familial case was reported by Eaton and McKusick(1969)(9). Latter similar cases with familial inheritance were reported by various authors(2,4,5); which suggests the variable expressivity and autosomal dominant mode of inheritance of this sort of congenital malformations. Gene responsible for preaxial polydactyly associated with tibial dysplasia/ aplasia, has been localized to chrosome 7q36(1).Very few cases are reported in India, and even fewer from our region. Here we report a case of a newborn on day-1, admitted in nursery with polydactyly of both upper and lower limbs, along with unilateral limb shortening and bilateral congenital talipes-equinovarus(CTEV); and also similar limb defects in the same family members spanning three generations.