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具有明显正常发育的C综合征。

C syndrome with apparently normal development.

作者信息

Stratton R F, Sykes N J, Hassler T W

机构信息

Department of Pediatrics, Wilford Hall USAF Medical Center, Lackland AFB, Texas.

出版信息

Am J Med Genet. 1990 Dec;37(4):460-2. doi: 10.1002/ajmg.1320370406.

Abstract

C syndrome is an autosomal recessive craniosynostosis syndrome with characteristic cranial, facial, palate, and joint abnormalities. All but 2 of the reported patients have had severe mental retardation. We report on an 8-month-old girl with C syndrome and apparently normal development except for tasks hindered by her lower body abnormalities. We also offer a possible explanation for the palatal configuration.

摘要

C综合征是一种常染色体隐性颅缝早闭综合征,具有典型的颅骨、面部、腭部和关节异常。除2例报告患者外,其他患者均有严重智力障碍。我们报告了一名8个月大患有C综合征的女孩,除了下半身异常导致的活动受限外,其发育明显正常。我们还对腭部形态提出了一种可能的解释。

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