Tunnessen W W, McMillan J A, Levin M B
Am J Dis Child. 1978 Apr;132(4):393-5. doi: 10.1001/archpedi.1978.02120290065011.
We present the sixth reported case of the Coffin-Siris syndrome. This disorder is characterized by the absence of the nails of the fifth fingers and toes, severe mental and developmental retardation, and postnatal growth deficiency. Feeding and respiratory problems are prominent features. The Dandy-Walker malformation was found at autopsy in our patient. This malformation was also present in the only other patient with this syndrome whose autopsy has been reported.
我们报告了第六例Coffin-Siris综合征病例。这种疾病的特征是第五指和趾甲缺失、严重智力和发育迟缓以及出生后生长不足。喂养和呼吸问题是突出特征。在我们的患者尸检中发现了Dandy-Walker畸形。在另一例已报告尸检结果的该综合征患者中也存在这种畸形。