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.
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.
Grubben
C
C
Centre for Human Genetics, University of Leuven, Belgium.
de Cock
P
P
Borghgraef
M
M
van den Berghe
H
H
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D003241:Consanguinity; D002658:Developmental Disabilities / Q000235:genetics*; D004485:Eczema / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D017880:Limb Deformities, Congenital; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*