期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 152A, 期 10, 页码 2563-2568出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.33622
关键词
Barber-Say syndrome; autosomal dominant inheritance; phenotypic expression; surgical treatment
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. (C) 2010 Wiley-Liss, Inc.
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