title: Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome).
abstract: Three affected children (a 13-year-old girl and her 7- and 8-year-old brothers) in a sibship of eight had findings consistent with the Saldino-Mainzer syndrome (skeletal dysplasia associated with Leber's congenital amaurosis, familial juvenile nephronophthisis, and cone-shaped epiphyses of the hands). Two also had pigmented midline nevi. Although tapetoretinal degeneration and familial juvenile nephronophthisis are associated in the inherited Senior-Loken syndrome, the rare association of these abnormalities with cone-shaped epiphyses of the hands suggested an autosomal recessive syndrome with variable expression remarkably similar to the Saldino-Mainzer syndrome, which may or may not be distinct from the Senior-Loken syndrome. The association of tapetoretinal degeneration with skeletal dysplasia may indicate asymptomatic renal or hepatic disease.
mesh_terms: D000293:Adolescent; D001766:Blindness / Q000151:congenital*; D002524:Cerebellar Ataxia / Q000235:genetics; D002648:Child; D004838:Epiphyses / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D009508:Nevus, Pigmented / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics; D013577:Syndrome