Rezaei Mehrdad, Zamani Susan, Haghighinejad Hourvash
Department of Neonatology, Neonatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.
Indian Dermatol Online J. 2019 Mar-Apr;10(2):158-161. doi: 10.4103/idoj.IDOJ_68_18.
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and macrostomia. A literature review showed less than 20 previously reported cases of Barber Say syndrome. This presentation reports a one day old female with syndrome face, low hairline, coarse face, macrostomia, thin upper lip, bilateral ectropion and hypertelorism, hypertrichosis, senile skin appearance, hypoplastic nipples and one area of mild skin atrophy. These findings are consistent with BSS.
巴伯·赛综合征（BSS）是一种罕见的新生儿期起病的外胚层发育不良，其特征为先天性全身性多毛症、皮肤萎缩、睑外翻和巨口症。文献综述显示，此前报道的巴伯·赛综合征病例不足20例。本病例报告了一名1日龄女性，具有综合征面容、低发际线、面容粗糙、巨口症、上唇薄、双侧睑外翻和眼距增宽、多毛症、皮肤呈老年外观、乳头发育不全以及一处轻度皮肤萎缩。这些表现符合巴伯·赛综合征。
