Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.

ABSTRACT:

Context

Type VIII osteogenesis imperfecta (OI; OMIM 601915) is a recessive form of lethal or severe OI caused by null mutations in P3H1, which encodes prolyl 3-hydroxylase 1.

Objectives

Clinical and bone material description of non-lethal type VIII OI.

Design

Natural history study of type VIII OI.

Setting

Pediatric academic research centers.

Patients

Five patients with non-lethal type VIII OI, and one patient with lethal type VIII OI.

Interventions

None.

Main outcome measures

Clinical examinations included bone mineral density, radiographs, and serum and urinary metabolites. Bone biopsy samples were analyzed for histomorphometry and bone mineral density distribution by quantitative backscattered electron imaging microscopy. Collagen biochem

SUBMITTER: Fratzl-Zelman N 

PROVIDER: S-EPMC5010570 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature