Jackson I T, Shaw K E, del Pinal Matorras F
Section of Plastic and Reconstructive Surgery, Mayo Clinic, Rochester.
Br J Plast Surg. 1988 Jul;41(4):410-6. doi: 10.1016/0007-1226(88)90084-7.
The ablepharon macrostomia syndrome is an extremely rare congenital anomaly. It is characterised by bilateral absence or hypoplasia of lower eyelids, macrostomia and multiple other congenital anomalies. Three cases have been reported (McCarthy and West, 1977; Hornblass and Reifler, 1985). In addition to ablepharon and macrostomia, other anomalies common to all patients include auricular deformity, nasal alar deformity, absence of lanugo hair, dry, ichthyotic skin and ambiguous genitalia. A new feature of the syndrome is described--absence of the zygomatic arches. In addition, an expanded and revised classification of the ablepharon macrostomia syndrome and related disorders is presented. Skin graft pigmentation in this black patient has been prevented by prolonged application of sun block.
睑裂缺如-大口畸形综合征是一种极为罕见的先天性异常。其特征为双侧下眼睑缺如或发育不全、大口畸形以及多种其他先天性异常。已有三例病例报道（麦卡锡和韦斯特，1977年；霍恩布拉斯和赖夫勒，1985年）。除睑裂缺如和大口畸形外，所有患者共有的其他异常包括耳部畸形、鼻翼畸形、胎毛缺如、皮肤干燥呈鱼鳞病样以及生殖器模糊。描述了该综合征的一个新特征——颧骨弓缺如。此外，还提出了睑裂缺如-大口畸形综合征及相关病症的扩展和修订分类。通过长期涂抹防晒霜，已预防了该黑人患者的皮肤移植色素沉着。
