A large frontal bone defect underlying a 'V' shaped scar was noted in a newborn male whose mother had an identical 'V' shaped scar at the same location in the anterior hairline. Both had hypertelorism and short palpebral fissures. The mother had no radiographic evidence of skull defect and neither mother nor child had other cutaneous or skeletal anomalies. Cranioplasty was performed on the child using the remaining frontal bones with an excellent cosmetic result. Biopsy performed at operation documented scar tissue extending through the dermis and underlain by thickened dura. Mother and child appear to have a variant form of aplasia cutis congenita, an autosomal dominant trait with wide variation in expression.
|Original language||English (US)|
|Number of pages||3|
|Journal||American Journal of Medical Genetics|
|State||Published - 1992|
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