Johanson-Blizzard syndrome: clinical and pathological findings in 2 sibs.
Here we report on 2 sibs with the Johanson-Blizzard syndrome (JBS). The first child died in the neonatal period, the autopsy showing presence of pancreatic ducts and islets surrounded by connective tissue and a total absence of acini. Morphologic changes suggested dysplasia leading to developmental failure, but early acinar destruction could not be ruled out. The second child had a constellation of abnormalities consistent with JBS, was managed surgically, and is maintained on replacement for his pancreatic enzyme and thyroid hypofunction. At 10 years, he is in a school for the hearing-impaired and is performing appropriately for his age.
Gould
N S
NS
Department of Pathology, Michael Reese Hospital and Medical Center, Chicago, IL 60616.
Paton
J B
JB
Bennett
A R
AR
D000015:Abnormalities, Multiple / Q000473:pathology*; D001344:Autopsy; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D007515:Islets of Langerhans / Q000002:abnormalities / Q000473:pathology; D008297:Male; D009295:Nasal Bone / Q000002:abnormalities; D012535:Scalp / Q000002:abnormalities; D013577:Syndrome