PMID: 752066Dec 1, 1978Paper

Familial manifestation of a circumscribed cutaneous aplasia of the vertex associated, in one case, with cardiac malformation (author's transl)

Journal de génétique humaine
J D Dubosson, P Schneider

Abstract

The authors described a one-month-old baby girl showing a zone of cutaneous aplasia of the vertex; she presented, in addition, an extensive interventricular communication. A family study enabled them to ascertain that her three-year-old brother had a scarred alopecial area starting at the bregmatic region and continuing backwards along the median line; the six-year-old sister also had a scar on the vertex. Neither parent had any anomaly of the scalp. It would appear that circumscribed cutaneous aplasias generally result from a localised developmental defect, the exact mechanism of which remains unexplained. Circumscribed cutaneous aplasia which is sporadic and isolated in the majority of cases of trisomy 13) can, however, be transmitted as a mendelian trait, usually dominant. In the family under study, the absence of any lesion in the parents and the very small distance separating the two communes from which they originated rather favour a recessive autosomal mode of heredity.

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