David A, Gordeeff A, Badoual J, Delaire J
Department of Pediatrics, Centre Hospitalier Régional et Universitaire, Nantes, France.
Am J Med Genet. 1991 Apr 1;39(1):112-5. doi: 10.1002/ajmg.1320390124.
We report on a boy with bilateral ectropion, ocular hypertelorism, bulbous nose, macrostomia with thin lips, abnormal ears, hypertrichosis of the forehead, neck and back, atrophic skin with hypoplastic nipples. Cause and inheritance are unknown.
我们报告了一名患有双侧睑外翻、眼距过宽、球鼻、阔口薄唇、耳部异常、前额、颈部和背部多毛症、皮肤萎缩伴乳头发育不全的男孩。病因和遗传方式不明。