Severe pre‐ and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity
作者:
C. Grubben,
P. Cecil,
M. Borghgrae,
H. Berghe,
J. P. Fryns,
期刊:
Clinical Genetics
(WILEY Available online 1992)
卷期:
Volume 41,
issue 1
页码: 16-21
ISSN:0009-9163
年代: 1992
DOI:10.1111/j.1399-0004.1992.tb03621.x
出版商: Blackwell Publishing Ltd
关键词: corpus callosum;mental retardation;multiple congenital anomalies
数据来源: WILEY
摘要:
Grubben C, De Cock P, Borghgraef M, Van den Berghe H, Fryns JP. Severe pre‐ and postnatal growth retardation, developmental delay with hypotonia and marked hypertrophy of the distal extremities, dental anomalies and eczematous skin. A new autosomal recessive entity. Clin Genet 1992:41: 16–21.We report on three young children, two girls and one boy, with pre‐ and postnatal growth deficiency, hypotonia, psychomotor retardation with notably impaired speech development, hypotrophy of the distal extremities, small hands and feet, small and widely spaced teeth, eczematous skin, and, in two of them, a partial agenesis of the corpus callosum. To our knowledge this specific combination of features has not been reported before. Since the two girls are sisters and the boy is the product of a consanguineous marriage, the inheritance of this new syndrome appears to be autosomal rece
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