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Barber–Say syndrome in a father and daughter

✍ Scribed by Nathalie Roche; Philippe Houtmeyers; Sandra Janssens; Philllip Blondeel

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
355 KB
Volume
152A
Category
Article
ISSN
1552-4825

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✦ Synopsis

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.

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