Congenital scalp defects with distal limb reduction anomalies.

Scalp defects occur as an isolated abnormality or in association with other malformations, and familial cases were first reported by Feud et all in 1945 and Tisserand-Perier2 in 1953. In 1945, Adams and Oliver3 were the first to report the distinct association of scalp defects with distal limb anomalies. Later reports in the mid-1970s by Burton et al4 and Scribanu and Temtamy5 showed that the combination of a scalp defect with acral reduction anomalies represents a distinct, genetically determined syndrome with autosomal dominant inheritance and considerable variability in expression.