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.
|Original language||English (US)|
|Number of pages||3|
|Journal||Journal of medical genetics|
|State||Published - Dec 1 1976|
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