title: Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis.
abstract: 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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. obodamer@yahoo.com
authors.forename: O A
authors.initials: OA
authors.lastname: Bodamer
authors.forename: R M
authors.initials: RM
authors.lastname: Bravermann
authors.forename: W J
authors.initials: WJ
authors.lastname: Craigen
mesh_terms: D001706:Biopsy; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005598:Fractures, Spontaneous / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007085:Ilium / Q000473:pathology; D007223:Infant; D010022:Osteopetrosis / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D012720:Severity of Illness Index