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Multiple fractures in a 3‐month‐old infant with severe infantile osteopetrosis
Author(s) -
Bodamer OAF,
Bravermann RM,
Craigen WJ
Publication year - 2001
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.2001.00710.x
Subject(s) - osteopetrosis , medicine , pediatrics , presentation (obstetrics) , radiological weapon , pathology , surgery
: A diagnosis of severe infantile, autosomal recessive osteopetrosis (I‐ARO) was made in a 3‐month‐old female based on characteristic radiological and histological findings. The finding of multiple fractures at presentation in this infant is highly unusual. Deficiency of carbonic‐anhydrase type II was excluded.