Lin A E, Siebert J R, Graham J M
Department of Medical Genetics, Western Pennsylvania Hospital, Pittsburgh 15224.
Am J Med Genet. 1990 Nov;37(3):304-10. doi: 10.1002/ajmg.1320370303.
Of 144 patients with the CHARGE association (literature 136, new patients 8), 47 (33%) had either a postmortem examination (30) or computerized axial tomography scan (17) of the head. Twenty-six of 47 (55%) had definite central nervous system (CNS) malformations; arhinencephaly, with or without other defects (11), holoprosencephaly (2), holoprosencephaly with arhinencephaly (1), other forebrain defects (3), hindbrain defects (3), or other defects (6). The presence of CNS malformation was most strongly associated with choanal atresia. This review demonstrates a predominance of forebrain anomalies, particularly arhinencephaly and holoprosencephaly, which may provide a clue to the mechanism of abnormal morphogenesis involved in CHARGE association.
在144例患有CHARGE综合征的患者中（文献报道136例，新患者8例），47例（33%）接受了头部尸检（30例）或计算机断层扫描（17例）。47例中有26例（55%）存在明确的中枢神经系统（CNS）畸形；无脑回畸形，伴或不伴其他缺陷（11例），前脑无裂畸形（2例），前脑无裂畸形合并无脑回畸形（1例），其他前脑缺陷（3例），后脑缺陷（3例），或其他缺陷（6例）。中枢神经系统畸形的存在与后鼻孔闭锁最为密切相关。本综述表明前脑异常占主导，尤其是无脑回畸形和前脑无裂畸形，这可能为CHARGE综合征所涉及的异常形态发生机制提供线索。
