Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A. 2011 Dec;155A(12):3060-2. doi: 10.1002/ajmg.a.34287. Epub 2011 Oct 14.
Ablepharon-Macrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral commissures, abnormal ears, ambiguous genitalia, skin differences including dry and coarse skin or redundant folds of skin, and developmental delay. Fewer than 20 patients have been reported to date. These include a parent and two children and a recent report of a father and daughter, therefore suggesting autosomal dominant inheritance. Here we present one additional sporadic case with an expanded phenotype. This patient has more significant hand and foot anomalies than previously reported.
眼裂缺失-口过大畸形综合征（AMS）是一种罕见的临床表现集合，其特征为眼睑缺失或发育不全、口角融合伴外侧口角未融合、耳部畸形、生殖器模糊、皮肤差异包括干燥粗糙的皮肤或多余的皮肤褶皱以及发育迟缓。迄今为止，已有不到 20 例患者被报道。这些患者包括一名父系和两名子系患者，以及最近报道的一对父女，因此提示常染色体显性遗传。在这里，我们介绍了一个额外的散发病例，并对其表型进行了扩展。与以往报道相比，该患者的手部和足部畸形更为明显。
