da-Silva E O
Instituto Materno-Infantil de Pernambuco (IMIP), Universidade Federal de Pernambuco, Recife, PE, Brazil.
Am J Med Genet. 1988 Apr;29(4):837-43. doi: 10.1002/ajmg.1320290413.
This study concerns an apparently lethal and previously undescribed syndrome of hypoplastic corpus callosum, microcephaly, severe mental retardation, preauricular skin tag, camptodactyly, growth retardation, and recurrent bronchopneumonia. This combination of anomalies is probably inherited as an autosomal recessive trait. A brief literature review of the anomalies or syndromes associated with callosal defects is discussed.
本研究涉及一种明显致命且此前未被描述过的综合征，其特征包括胼胝体发育不全、小头畸形、严重智力发育迟缓、耳前皮肤赘生物、屈曲指、生长发育迟缓以及复发性支气管肺炎。这种异常组合可能作为常染色体隐性性状遗传。文中讨论了与胼胝体缺陷相关的异常或综合征的简要文献综述。
