Mucolipidosis III and Bardet-Biedl syndrome in the same family: diagnostic pitfalls

C R Gordon; Y Bar-Ziv; M Frydman; J Zlotogora; N Gadoth

doi:10.1016/s0387-7604(12)80072-6

Mucolipidosis III and Bardet-Biedl syndrome in the same family: diagnostic pitfalls

Brain Dev. 1990;12(4):403-7. doi: 10.1016/s0387-7604(12)80072-6.

Authors

C R Gordon¹, Y Bar-Ziv, M Frydman, J Zlotogora, N Gadoth

Affiliation

¹ Department of Neurology, Beilinson Medical Center, Petah Tiqva, Israel.

PMID: 2240460
DOI: 10.1016/s0387-7604(12)80072-6

Abstract

Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental.

Publication types

Case Reports

MeSH terms

Consanguinity
Fingers / abnormalities
Humans
Infant, Newborn
Intellectual Disability / genetics
Male
Mucolipidoses / complications*
Mucolipidoses / diagnosis
Mucolipidoses / genetics
Obesity / genetics
Pedigree
Retinitis Pigmentosa / complications
Retinitis Pigmentosa / genetics
Syndrome