Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken

Citation
Rm. Pauli et al., Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken, AM J MED G, 86(5), 1999, pp. 434-438
Citations number
6
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
86
Issue
5
Year of publication
1999
Pages
434 - 438
Database
ISI
SICI code
0148-7299(19991029)86:5<434:MHMSOI>2.0.ZU;2-G
Abstract
We describe a fifth instance of hypophosphatasia presenting with prenatal f indings suggestive of a very severe bone dysplasia but with a subsequently benign course. Spontaneous improvement of long-bone angulation began prenat ally. The postnatal course has been encouraging. This sixth clinical form o f hypophosphatasia, which we suggest should be called the benign prenatal f orm of hypophosphatasia, should be added to the differential diagnostic pos sibilities considered when angulation or bowing of long bones is discovered prenatally, (C) 1999. Wiley-Liss, Inc.