Syndromes with congenital brittle bones

BMC Pediatrics

Horacio Plotkin¹ 

[1] Inherited Metabolic Diseases Section, Department of Pediatrics, University of Nebraska Medical Center, And Children's Hospital, Omaha, Nebraska, USA

关键词: congenital;    brittle bones;    osteogenesis imperfecta;    classification;   

Others  :  1181709
DOI  :  10.1186/1471-2431-4-16

 received in 2004-05-18, accepted in 2004-08-31,  发布年份 2004

【 摘 要 】

Background

There is no clear definition of osteogenesis imperfecta (OI). The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI).

Discussion

A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes), and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not). A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2).

Summary

A debate about the definition of OI and a possible clinical and prognostic classification are warranted.

【 授权许可】

   
2004 Plotkin; licensee BioMed Central Ltd.

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