Department of Plastic and Reconstructive Surgery, University Hospital, Gent, Belgium.
Am J Med Genet A. 2010 Oct;152A(10):2563-8. doi: 10.1002/ajmg.a.33622.
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.
我们报告了一例父亲向女儿传递 Barber-Say 综合征（BSS）的病例，这是一种罕见的先天性疾病，其特征为严重的全身性多毛症、巨口、眼球内眦赘皮、球状鼻和萎缩性皮肤。这两个病例进一步支持常染色体显性遗传。两者均表现出典型的 BSS 症状，但父亲的表型表达较轻。治疗对患者和医生来说都是一个挑战，需要多学科的方法。
