[Larsen's syndrome. Clinical findings and inheritance (author's transl)].
Three new case reports of Larsen's syndrome (multiple congenital dislocations of the joints, distinctive facies and skeletal abnormalities) are presented. For the first time this condition is described to be associated with deafness and retinal dysplasia. Data in the literature show this syndrome to be inherited as sporadic, autosomal recessive or dominant. The 3 reported cases seem to have and autosomal recessive inheritance.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D003025:Clubfoot / Q000209:etiology* / Q000235:genetics; D003638:Deafness / Q000151:congenital; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000151:congenital* / Q000235:genetics; D008268:Macular Degeneration / Q000151:congenital; D008297:Male; D013577:Syndrome
Le syndrome de Larsen. Aspects cliniques et génétiques.