De Barsy syndrome--an autosomal recessive, progeroid syndrome. European journal of pediatrics. [Eur J Pediatr] Journal article

Title	De Barsy syndrome--an autosomal recessive, progeroid syndrome.
Author(s)	Kunze J, Majewski F, Montgomery P, Hockey A, Karkut I, Riebel T
Source	Eur J Pediatr 1985 Nov; 144(4):348-54.
MeSH	Abnormalities, Multiple Adolescent Adult Child Child, Preschool Cutis Laxa Face Female Genes, Recessive Humans Infant Joint Instability Male Mental Retardation Movement Disorders Muscle Hypotonia Progeria Skin Abnormalities Syndrome
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 clouding or cataracts. The syndrome probably has autosomal recessive inheritance.
Language	eng
Pub Type(s)	Journal Article
PubMed ID	4076251

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