Gibbs M L, Wilkie A O, Winter R M, Taylor D, Baraitser M
Department of Ophthalmology, Hospital for Sick Children, London, UK.
Clin Dysmorphol. 1994 Apr;3(2):132-8.
Two unrelated children are described with megalocornea, mild-moderate developmental delay, mild joint laxity and a similar dysmorphic appearance, comprising a bossed forehead, hypertelorism, a saddle-shaped nose and a carp-shaped mouth with prominent lips. Similar abnormalities have been observed in previously reported cases of megalocornea/mental retardation and may help to define one subtype of this heterogeneous group of conditions.
本文描述了两名无血缘关系的儿童，他们患有大角膜、轻至中度发育迟缓、轻度关节松弛以及相似的畸形外观，包括前额隆起、眼距过宽、鞍状鼻和嘴唇突出的鲤鱼嘴。在先前报道的大角膜/智力发育迟缓病例中也观察到了类似异常，这可能有助于定义这一异质性疾病组中的一个亚型。
