Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis.
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.
Bodamer
O A
OA
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. obodamer@yahoo.com
Bravermann
R M
RM
Craigen
W J
WJ
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