ISSN:
1432-1076
Keywords:
De Barsy syndrome
;
Progeroid syndromes
;
Cutis laxa
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We report two families with seven siblings with de Barsy syndrome. Characteristic features include severe mental retardation, hypermobility with athetoid movements, grimacing, muscular hypotonia, laxity of small joints and brisk deep tendon reflexes, progeroid aspect with cutis laxa, atrophy of skin with hyperpigmentation, isolated depigmentations, reduction of subcutaneous fatty tissue, translucent vein pattern, short stature, frontal bossing in the young child, large prominent ears with dysplastic helices and corneal coulding or cataracts. The syndrome probably has autosomal recessive inheritance.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00441776
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