There are many reports of isolated congenital scalp defects. Often these cases were familial, while others were associated with a variety of chromosomal abnormalities. There have been 4 case reports describing congenital scalp defects in association with distal limb anomalies, suggesting that this may be a distinct genetic entity. Hereditary studies in 2 of these reports are indicative of autosomal dominant inheritance. Only in one other report is an affected individual described who had normal parents but a sib with a scalp defect, suggesting the possibility of autosomal recessive inheritance. This article reports a family in which the syndrome of congenital scalp defect with distal limb anomalies is expressed in several members. This provides additional evidence for the autosomal dominant inheritance of this disorder.
ASJC Scopus subject areas