一例9三体综合征病例。
A case of trisomy 9.
作者信息
Feingold M, Atkins L
出版信息
J Med Genet. 1973 Jun;10(2):184-7. doi: 10.1136/jmg.10.2.184.
Abstract
The first patient with trisomy 9, an infant who survived 28 days, is reported. Clinical findings included microcephaly, low-set malformed ears, small palpebral fissures, enophthalmos, bulbous nose, micrognathia, low hairline, congenital heart disease, skeletal abnormalities, small penis, hypoplastic scrotum, and a Dandy-Walker like deformity of the fourth ventricle.
摘要
报道了首例9三体综合征患者，为一名存活28天的婴儿。临床发现包括小头畸形、低位畸形耳、睑裂小、眼球内陷、球鼻、小颌畸形、发际线低、先天性心脏病、骨骼异常、小阴茎、阴囊发育不全以及第四脑室类似丹迪-沃克畸形。
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