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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
Author(s) -
Grubben C.,
Cecil P.,
Borghgrae M.,
Berghe H.,
Fryns J. P.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03621.x
Subject(s) - hypotonia , psychomotor retardation , autosomal recessive inheritance , medicine , eczematous dermatitis , agenesis of the corpus callosum , x linked recessive inheritance , endocrinology , corpus callosum , pediatrics , anatomy , dermatology , biology , genetics , pathology , x chromosome , alternative medicine , gene
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 recessive.