Syndrome of microcephaly, Brachmann–de Lange‐like facial changes, severe metatarsus adductus, and developmental delay: Mild Brachmann‐de Lange syndrome?

Abstract

We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann–de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The syndrome, which seems to be inherited as an autosomal dominant trait with variable expressivity, resembles mild BDLS.