Maas Saskia M, Kayserili Hulya, Lam Jan, Apak Memnune Y, Hennekam Raoul C M
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Am J Med Genet A. 2004 Dec 1;131(2):127-33. doi: 10.1002/ajmg.a.30244.
The combination of the symptoms megalocornea, multiple skeletal anomalies, and developmental delay was first recognized as a separate entity by Frank et al. and subsequently confirmed by ter Haar et al. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears, and prominent coccyx bone can be also regarded as important diagnostic signs. Inheritance most likely is autosomal recessive. Several manifestations such as progressive "coarsening" of the face, hirsutism, gallstones, lingual papillomatosis, and cardiac valve anomalies all point to a possible metabolic basis of the disorder. Here we describe four patients, including three sibs of Turkish descent, with this entity.
巨角膜、多发性骨骼异常和发育迟缓这组症状最初由弗兰克等人确认为一个独立的病症，随后得到了特哈尔等人的证实。主要特征包括短头畸形、囟门宽大、前额突出、眼距过宽、眼球突出、有或无青光眼的大角膜、脸颊丰满、小下巴、长骨弯曲以及手指屈曲畸形。突出的、形态简单的耳朵和突出的尾骨也可被视为重要的诊断体征。遗传方式很可能是常染色体隐性遗传。面部逐渐“变粗糙”、多毛症、胆结石、舌乳头瘤病和心脏瓣膜异常等多种表现均表明该病症可能存在代谢基础。在此，我们描述了4例患有该病症的患者，其中包括3名土耳其裔的同胞。
