Antley R M, Hwang D S, Theopold W, Gorlin R J, Steeper T, Pitt D, Danks D M, McPherson E, Bartels H, Wiedemann H R, Opitz J M
Am J Med Genet. 1981;9(2):147-63. doi: 10.1002/ajmg.1320090209.
This communication brings the number of recognized cases of the C (trigonocephaly) syndrome to 11. The pattern of findings includes an anomaly of the anterior cranium and frontal cortex (trigonocephaly), the root of the nose (broad nasal bridge, epicanthus, and short nose), and palate (thick anterior alveolar ridges); abnormalities of the limbs (polysyndactyly, bridged palmar creases, short limbs, and joint dislocations and/or contractures); visceral defects (congenital heart defects, cryptorchidism, and abnormal lobulations of the lungs and kidneys). Auricular, mandibular, skin, and genital abnormalities also occur. Consistent neurological findings are hypotonia, strabismus, and psychomotor retardation; seizures have been reported. Normal chromosomes, normal parents with multiple affected offspring, equal sex ratio of affected individuals, and consanguineous matings all support autosomal recessive inheritance of the C syndrome. In autopsied cases, there has been a suggestion of defective central nervous system myelination. About 1/2 of the case have died within the first year. All survivors have severe to profound mental retardation except for one child who has moderate retardation.
本报告使已确认的C（三角头畸形）综合征病例数增至11例。其发现模式包括前颅和额叶皮质异常（三角头畸形）、鼻根（宽鼻梁、内眦赘皮和短鼻）以及腭部（前牙槽嵴增厚）；肢体异常（多指/趾畸形、掌纹相连、肢体短小以及关节脱位和/或挛缩）；内脏缺陷（先天性心脏缺陷、隐睾以及肺和肾分叶异常）。耳部、下颌、皮肤和生殖器也有异常。一致的神经学表现为肌张力减退、斜视和精神运动发育迟缓；有癫痫发作的报告。正常染色体、父母正常但有多个患病后代、患病个体的性别比例相等以及近亲婚配均支持C综合征为常染色体隐性遗传。在尸检病例中，有中枢神经系统髓鞘形成缺陷的迹象。约一半病例在第一年死亡。除一名中度智力发育迟缓的儿童外，所有幸存者均有严重至极重度智力发育迟缓。
