Young I D, McKeever P A, Squier M V, Grant J
Department of Clinical Genetics, City Hospital, Nottingham.
J Med Genet. 1992 Oct;29(10):733-5. doi: 10.1136/jmg.29.10.733.
This report describes the clinical and neuropathological features in male and female sibs who died shortly after birth as a result of frequent convulsions and lack of spontaneous respiratory effect. Both sibs had a prominent occiput with mild contractures and the female also had overlapping fingers and rockerbottom feet. The genetic and neuropathological findings were consistent with a diagnosis of an autosomal recessive form of olivopontoneocerebellar hypoplasia/atrophy.
本报告描述了一对同胞兄妹（一男一女）的临床和神经病理学特征，他们出生后不久因频繁抽搐和缺乏自主呼吸而死亡。两个患儿均有明显的枕部突出并伴有轻度挛缩，女孩还伴有手指重叠和摇椅底足。遗传学和神经病理学检查结果符合常染色体隐性遗传性橄榄脑桥小脑发育不全/萎缩的诊断。
