额颞叶巨脑回畸形——两名新患者。
Frontotemporal pachygyria-two new patients.
作者信息
Avela Kristiina, Toiviainen-Salo Sanna, Karttunen-Lewandowski Pirkko, Kauria Leena, Valanne Leena, Salonen-Kajander Riitta
机构信息
Department of Clinical Genetics, Helsinki University Central Hospital, 00029 HUS, Finland.
出版信息
Eur J Med Genet. 2012 Dec;55(12):753-7. doi: 10.1016/j.ejmg.2012.09.007. Epub 2012 Sep 27.
PMID:23022981
Abstract
We describe two Finnish brothers with frontotemporal pachygyria, intellectual deficiency and mild dysmorphisms. Previously, only a few cases of similar frontotemporal pachygyria have been reported. This report provides further evidence about frontotemporal pachygyria being a distinct genetic entity inherited as an autosomal recessive trait.
摘要
我们描述了两名患有额颞叶巨脑回、智力缺陷和轻度畸形的芬兰兄弟。此前，仅有少数几例类似的额颞叶巨脑回病例被报道。本报告为额颞叶巨脑回作为一种以常染色体隐性性状遗传的独特遗传实体提供了进一步的证据。
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