Trabelsi M, Monastiri K, Hammami A, Touzi C, Ben Hariz M, Gharbi H A, Bennaceur B
Ann Pediatr (Paris). 1989 Dec;36(10):693-6.
We report a new case of femoral hypoplasia-unusual facies syndrome (FH-UFS). A review of the literature disclosed fifty-five previously published cases. Both boys and girls can be affected. The syndrome includes bilateral femoral hypoplasia; facial dysmorphism with a cleft palate, micrognathia, a long philtrum, a thin upper lip, and a short broad-tipped nose; dysplasia of the hips; and hypoplasia of the fibulae. Other malformations may be found, including skeletal defects and visceral (especially cardiovascular and genitourinary) abnormalities. Etiopathogenesis of this syndrome remains unknown. Some investigators have suggested a link between the FH-UFS and caudal dysplasia in infants born to diabetic mothers.
我们报告了一例新的股骨发育不全-特殊面容综合征(FH-UFS)。文献回顾发现了55例先前发表的病例。男孩和女孩均可受累。该综合征包括双侧股骨发育不全;面部畸形,伴有腭裂、小颌畸形、人中长、上唇薄和鼻尖短而宽;髋关节发育不良;以及腓骨发育不全。还可能发现其他畸形,包括骨骼缺陷和内脏(尤其是心血管和泌尿生殖系统)异常。该综合征的病因发病机制尚不清楚。一些研究人员提出,FH-UFS与糖尿病母亲所生婴儿的尾部发育异常之间存在联系。