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Barber–Say syndrome in a father and daughter

2010; Wiley; Volume: 152A; Issue: 10 Linguagem: Inglês

10.1002/ajmg.a.33622

1552-4833

Nathalie Roche, Philippe Houtmeyers, Sandra Janssens, Phillip Blondeel,

Genetic and rare skin diseases.

Abstract We report on a father to daughter transmission of Barber–Say syndrome (BSS), a rare, congenital disorder characterized by severe generalized hypertrichosis, macrostomia, ocular telecanthus, bulbous nose and atrophic skin. These two cases further support the autosomal dominant inheritance. Both presented with the typical BSS symptoms but the phenotypic expression in the father was milder. Treatment is challenging for both patients and doctors, requiring a multidisciplinary approach. © 2010 Wiley‐Liss, Inc.