CRANIOMETADIAPHYSEAL DYSPLASIA, WORMIAN BONE TYPE

We report on a 4-year-old boy with cranio-metadiaphyseal dysplasia (CM DD), wormian bone type. Component manifestations include a large head with prominent forehead, skull changes showing multiple wormian bones, wide long tubular bones without the usual metaphyseal flare, wide and short tubular bones without the normal diaphyseal constriction, and w ide ribs and clavicles, In addition to these findings, the propositus, his brother, his father, and a paternal aunt all have parietal protub erances, which seem not related to CMDD, Parental consanguinity suppor ts the autosomal recessive transmission of the condition. (C) 1998 Wil ey-Liss, Inc.