不明综合征：面容异常、甲状腺功能减退及重度智力发育迟缓：第二例患者
Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.
作者信息
Fryns J P, Moerman P
机构信息
Centre for Human Genetics, University of Leuven, Belgium.
出版信息
J Med Genet. 1988 Jul;25(7):498-9. doi: 10.1136/jmg.25.7.498.
Abstract
In the November 1987 issue of this journal, Young and Simpson presented a female infant with abnormal facies (microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, and micrognathia), congenital heart abnormalities (large atrial and ventricular septal defects), congenital hypothyroidism, and severe global retardation. We have observed a male newborn with a similar pattern of malformations (figs. 1 and 2).
摘要
在1987年11月的这本期刊中，扬和辛普森报道了一名患有异常面容（小头畸形、睑裂狭小、耳朵小、低位、向后旋转、球状鼻、鲤鱼嘴和小颌畸形）、先天性心脏异常（大的房间隔和室间隔缺损）、先天性甲状腺功能减退和严重全面发育迟缓的女婴。我们观察到一名具有类似畸形模式的男婴（图1和图2）。
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