[The Johanson-Blizzard syndrome].
A 17 year and 10 month old boy with Johanson-Blizzard syndrome is presented as a case report for the first time. Diagnosis has been established on the basis of craniofacial abnormalities: microcephalia, parietal skin and bone defects, sparse hair with frontal up sweep, alae nasi hypoplasia, irregular dentition and nasolacrimal fistula, with mental insufficiency, partial exocrine pancreatic insufficiency and low birth-weight and length, hypotonia and failure to thrive in infancy. Congenital cataract and hiatus sacralis apertus are additional signs that have never been described in the literature concerning Johanson-Blizzard syndrome.
Dumić
M
M
Klinika za pedijatriju Rebro, Medicinskog fakulteta Sveucilista u Zagrebu.
Ille
J
J
Bobonj
G
G
Kordić
R
R
Batinica
S
S
D000293:Adolescent; D019465:Craniofacial Abnormalities; D004476:Ectodermal Dysplasia; D010188:Exocrine Pancreatic Insufficiency; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome