Larsen syndrome in two generations of an Italian family.
This paper describes a familial case of Larsen syndrome. Typical anomalies were present in the propositus and 2 of his 6 daughters. In addition, all patients had progressive deafness and the 2 daughters had cleft palate. The certain exclusion of any consanguinity between the couple, suggests, in this instance, the dominant mode of transmission of the syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007592:Joint Diseases / Q000235:genetics*; D017880:Limb Deformities, Congenital; D008297:Male; D008875:Middle Aged; D013577:Syndrome