Barber-Say syndrome in a father and daughter.

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.

• Authors: Nathalie Roche, Philippe Houtmeyers, Sandra Janssens, Philllip Blondeel
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 152A Issue 10 Pg. 2563-8 (Oct 2010) ISSN: 1552-4833 [Electronic] United States
• PMID: 20799330 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2010 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Atrophy
• Child
• Eye Diseases (genetics)
• Eyelids (abnormalities)
• Female
• Humans
• Hypertrichosis (genetics)
• Karyotyping
• Macrostomia (genetics)
• Male
• Nose (abnormalities)
• Skin (pathology)
• Syndrome