Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome

R Gershoni-Baruch; A Lerner; J Braun; Y Katzir; T C Iancu; A Benderly

doi:10.1002/ajmg.1320350421

Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome

Am J Med Genet. 1990 Apr;35(4):546-51. doi: 10.1002/ajmg.1320350421.

Authors

R Gershoni-Baruch¹, A Lerner, J Braun, Y Katzir, T C Iancu, A Benderly

Affiliation

¹ Department of Genetics, Rambam Medical Center, Haifa, Israel.

PMID: 2185632
DOI: 10.1002/ajmg.1320350421

Abstract

We report on 2 patients with Johanson Blizzard syndrome and review the literature, in an attempt to further characterize the clinical spectrum of this disorder.

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / diagnosis*
Anus, Imperforate / diagnosis
Consanguinity
Exocrine Pancreatic Insufficiency / diagnosis
Face / abnormalities
Failure to Thrive
Female
Hearing Loss, Bilateral / diagnosis
Humans
Infant, Newborn
Syndrome