未知综合征：具有类似努南综合征的颅面特征、手指异常和早产。
Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.
作者信息
Shepherd R C, Goudie D R, Tolmie J L
机构信息
Department of Paediatrics, Inverclyde Royal Hospital, Greenock, Glasgow.
出版信息
J Med Genet. 1989 Jul;26(7):470-2. doi: 10.1136/jmg.26.7.470.
Abstract
We report a mother and two of her children, one female and the other male, who have ptosis, hypertelorism, epicanthic folds, downward slanting palpebral fissures, broad nasal bridge, and minor digital anomalies (fig 1); the children had delayed closure of a large anterior fontanelle. All three affected persons were born prematurely.
摘要
我们报告了一位母亲及其两个孩子，一个女孩和一个男孩，他们都有上睑下垂、眼距过宽、内眦赘皮、睑裂向下倾斜、鼻梁宽阔以及轻微的手指异常（图1）；孩子们前囟门闭合延迟。所有三名患者均为早产儿。
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J Med Genet. 1989 Jul;26(7):470-2. doi: 10.1136/jmg.26.7.470.
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本文引用的文献
1
Autosomal dominant inheritance of the Aarskog syndrome.
Am J Med Genet. 1983 May;15(1):39-46. doi: 10.1002/ajmg.1320150105.
2
New autosomal recessive faciodigitogenital syndrome.新型常染色体隐性面指生殖器综合征
J Med Genet. 1988 Jun;25(6):400-6. doi: 10.1136/jmg.25.6.400.
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