Haensel Jennifer, Kohlschmidt Nicolai, Pitz Susanne, Keilmann Annerose, Zenker Martin, Ullmann Reinhard, Haaf Thomas, Bartsch Oliver
Institute of Human Genetics, Johannes Gutenberg University, Mainz, Germany.
Am J Med Genet A. 2009 Oct;149A(10):2236-40. doi: 10.1002/ajmg.a.32993.
We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our report supports this hypothesis.
我们报告了一名7岁女孩，具有明确的巴伯-赛综合征（BSS）特征：全身多毛，尤其是背部，皮肤干燥松弛，大口畸形，嘴唇变薄，杯状耳，球鼻，乳头发育不全，以及外生殖器异常。她还表现出传导性听力障碍和睑裂狭小。BSS曾有报道伴有睑外翻（我们的患者未出现），但睑裂缺如和睑裂狭小（即眼睑缺失或发育不全）一直被认为是睑裂缺如大口畸形综合征（AMS）的标志。这是BSS中睑裂狭小的首次报道。其他作者曾讨论过BSS和AMS可能代表同一种综合征，我们的报告支持这一假说。
