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Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome).

Authors
  • Ellis, D S
  • Heckenlively, J R
  • Martin, C L
  • Lachman, R S
  • Sakati, N A
  • Rimoin, D L
Type
Published Article
Journal
American Journal of Ophthalmology
Publisher
Elsevier
Publication Date
Feb 01, 1984
Volume
97
Issue
2
Pages
233–239
Identifiers
PMID: 6696034
Source
Medline
License
Unknown

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.

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