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.
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Dedicated to Prof. H.-R. Wiedemann on the occasion of his 70th birthday
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Kunze, J., Majewski, F., Montgomery, P. et al. De Barsy syndrome—an autosomal recessive, progeroid syndrome. Eur J Pediatr 144, 348–354 (1985). https://doi.org/10.1007/BF00441776
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DOI: https://doi.org/10.1007/BF00441776