Stratton R F, Sykes N J, Hassler T W
Department of Pediatrics, Wilford Hall USAF Medical Center, Lackland AFB, Texas.
Am J Med Genet. 1990 Dec;37(4):460-2. doi: 10.1002/ajmg.1320370406.
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.
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。
