Christianson A L, Van Allen M I
Department of Human Genetics and Developmental Biology, University of Pretoria, South Africa.
Am J Med Genet. 1996 Dec 11;66(2):150-3. doi: 10.1002/(SICI)1096-8628(19961211)66:2<150::AID-AJMG5>3.0.CO;2-V.
We report on a 3-year-old boy with cartilaginous exostoses of the cranial sutures, rib hyperostosis, macrocephaly, metopic craniostenosis, epibulbar dermoid, hyperpigmented macules on the neck, focal fat deposition, and mild mental retardation with marked speech delay. Several of these manifestations were reported previously as an "unknown" by Thanos et al. [1977], with additional clinical information and a diagnosis of Proteus syndrome [Cohen, 1993].
我们报告了一名3岁男孩，患有颅骨缝软骨外生骨疣、肋骨骨质增生、巨头畸形、额缝早闭、眼球结膜皮样囊肿、颈部色素沉着斑、局灶性脂肪沉积，以及伴有明显语言发育迟缓的轻度智力障碍。其中一些表现先前被萨诺斯等人[1977年]报告为“不明情况”，本文提供了更多临床信息，并诊断为普洛透斯综合征[科恩，1993年]。
