Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome.
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.
Department of Genetics, Rambam Medical Center, Haifa, Israel.
R
R
Gershoni-Baruch
A
A
Lerner
J
J
Braun
Y
Y
Katzir
T C
TC
Iancu
A
A
Benderly
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001006:Anus, Imperforate / Q000175:diagnosis; D003241:Consanguinity; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis; D005145:Face / Q000002:abnormalities; D005183:Failure to Thrive; D005260:Female; D006312:Hearing Loss, Bilateral / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome