Document Detail

Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome).
MedLine Citation:
PMID:  6696034     Owner:  NLM     Status:  MEDLINE    
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.
D S Ellis; J R Heckenlively; C L Martin; R S Lachman; N A Sakati; D L Rimoin
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of ophthalmology     Volume:  97     ISSN:  0002-9394     ISO Abbreviation:  Am. J. Ophthalmol.     Publication Date:  1984 Feb 
Date Detail:
Created Date:  1984-03-20     Completed Date:  1984-03-20     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370500     Medline TA:  Am J Ophthalmol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  233-9     Citation Subset:  AIM; IM    
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MeSH Terms
Blindness / congenital*
Cerebellar Ataxia / genetics
Epiphyses / abnormalities*
Genes, Recessive
Hand Deformities, Congenital*
Kidney Diseases / genetics*
Nevus, Pigmented / genetics
Skin Neoplasms / genetics

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