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在父母正常的三个兄弟姐妹中出现智力发育迟缓、身材矮小、伴有睑下垂的颅面畸形和肺动脉狭窄的综合征。这是努南综合征常染色体隐性遗传的一个例子吗？

A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?

作者信息

Maximilian C, Ioan D M, Fryns J P

机构信息

Department of Clinical Genetics, Institute of Endocrinology, C.I. Parhon, Bucarest, Roumania.

出版信息

Genet Couns. 1992;3(2):115-8.

PMID:1642809
Abstract

We present a family with four children in which three, a girl and two boys, present a similar MR/MCA syndrome with slight to moderate mental retardation, short stature, peculiar facies with palpebral ptosis, pectus excavatum and pulmonary stenosis. As both parents are mentally and physically normal, autosomal recessive inheritance of this Noonan-like phenotype is most likely. The findings in the present family confirm that the Noonan phenotype may be caused by different etiologies with different types of genetic transmission.

摘要

我们报告一个有四个孩子的家庭，其中三个孩子，一个女孩和两个男孩，患有类似的MR/MCA综合征，伴有轻度至中度智力发育迟缓、身材矮小、特殊面容（伴有眼睑下垂、漏斗胸和肺动脉狭窄）。由于父母双方智力和身体均正常，这种类似努南综合征的表型很可能是常染色体隐性遗传。本家庭的研究结果证实，努南综合征的表型可能由不同病因和不同类型的基因传递引起。

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A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?在父母正常的三个兄弟姐妹中出现智力发育迟缓、身材矮小、伴有睑下垂的颅面畸形和肺动脉狭窄的综合征。这是努南综合征常染色体隐性遗传的一个例子吗？
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引用本文的文献

1
Noonan Syndrome in South Africa: Clinical and Molecular Profiles.南非的努南综合征：临床与分子特征
Front Genet. 2019 Apr 16;10:333. doi: 10.3389/fgene.2019.00333. eCollection 2019.
2
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.LZTR1相关努南综合征显性和隐性形式的描述。
Clin Genet. 2019 Jun;95(6):693-703. doi: 10.1111/cge.13533. Epub 2019 Apr 3.
3
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.常染色体隐性遗传 Noonan 综合征与 LZTR1 双等位基因突变相关。
Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.