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?
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?
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父母正常的三个兄弟姐妹患有智力低下、身材矮小、颅面异常、眼睑下垂和肺动脉狭窄的综合征。
DOI：
10.1016/j.stem.2024.02.002
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发表时间：
1992
影响因子：
--
通讯作者：
J. Fryns
中科院分区：
文献类型：
--
作者：
C. Maximilian;D. Ioan;J. Fryns
我们报告了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，表现出类似的MR/MCA综合征，轻度至中度智力迟钝，身材矮小，眼睑下垂，漏斗胸和肺狭窄的特殊相。由于父母双方精神和身体正常，这种努南样表型的常染色体隐性遗传是最有可能的。本家族的研究结果证实，Noonan表型可能是由不同的病因引起的，具有不同类型的遗传传递。
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.