Symptomatic hypothyroidism in children with collagen disease

Abstract

skull and scalp defects of which aplasia cutis congenita associated with terminal transverse defects represents a distinct genetic entity. A TTD as an isolated anomaly is a rare l imb malformation TM which is not inherited except in the rare acheiropody trait. The finding of aplasia cutis congenita in patients with terminal transverse defects, not associated with congenital ring constrictions, is a useful clue to its inheritance. Although the report of Adams and Oliver 1 suggests that the syndrome of aplasia cutis congenita with terminal transverse defects of the limbs is an autosomal dominant trait with complete penetrance and variable expressivity, our observations indicate the variable expressivity and reduced penetrance. The cuffs marmora ta noted in our REFERENCES