[Type II primordial microcephalic dwarfism. Report of a patient with completed growth].

Abstract

Type II primordial microcephalic dwarfism is a rare form of bird-headed dwarfism individualized in 1982 by Majewski. A case in a female patent with completed growth illustrates the main features, which include severe growth retardation (greater than 4 SD reduction in height) of prenatal onset, short limbs, coxa vara with epiphysiolysis of the hips, metaphyseal flaring and, in some instances, shortness of the ulnas and curvature of the radiuses. A genetic cause (with autosomal recessive inheritance) is very likely. A number of features in the case reported herein may be of pathogenetic relevance: growth hormone levels were elevated before closure of the epiphyses and normal thereafter, no growth spurt occurred at puberty, polycystic ovaries with hirsutism developed after puberty, and surgical wound healing was unusually slow.