Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis

O. A.F. Bodamer; R. M. Bravermann; W. J. Craigen

doi:10.1046/j.1440-1754.2001.00710.x

Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis

O. A.F. Bodamer, R. M. Bravermann, W. J. Craigen

Human Genetics

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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.

Original language	English (US)
Pages (from-to)	520-522
Number of pages	3
Journal	Journal of Paediatrics and Child Health
Volume	37
Issue number	5
DOIs	https://doi.org/10.1046/j.1440-1754.2001.00710.x
State	Published - 2001

Keywords

Fracture
Osteopetrosis
Osteosclerosis

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Access to Document

10.1046/j.1440-1754.2001.00710.x

Cite this

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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.",

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AB - 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.

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KW - Osteosclerosis

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Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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