Literature DB >> 10508985

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

R M Pauli1, P Modaff, S L Sipes, M P Whyte.   

Abstract

We describe a fifth instance of hypophosphatasia presenting with prenatal findings suggestive of a very severe bone dysplasia but with a subsequently benign course. Spontaneous improvement of long-bone angulation began prenatally. The postnatal course has been encouraging. This sixth clinical form of hypophosphatasia, which we suggest should be called the benign prenatal form of hypophosphatasia, should be added to the differential diagnostic possibilities considered when angulation or bowing of long bones is discovered prenatally. Copyright 1999 Wiley-Liss, Inc.

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Year:  1999        PMID: 10508985     DOI: 10.1002/(sici)1096-8628(19991029)86:5<434::aid-ajmg8>3.0.co;2-c

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  20 in total

1.  Clinical utility gene card for: hypophosphatasia.

Authors:  Etienne Mornet; Christine Beck; Agnès Bloch-Zupan; Hermann Girschick; Martine Le Merrer
Journal:  Eur J Hum Genet       Date:  2010-10-27       Impact factor: 4.246

2.  Hyperechoic metaphyses in hypophosphatasia: what does it mean?

Authors:  Marie Brasseur-Daudruy; Valentine Ickowicz; Sophie Degre; Eric Le Goupils; Danielle Eurin
Journal:  Pediatr Radiol       Date:  2007-12-15

3.  Clinical utility gene card for: hypophosphatasia - update 2013.

Authors:  Etienne Mornet; Christine Hofmann; Agnès Bloch-Zupan; Hermann Girschick; Martine Le Merrer
Journal:  Eur J Hum Genet       Date:  2013-08-07       Impact factor: 4.246

4.  Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis.

Authors:  Edward C W Leung; Aizeddin A Mhanni; Martin Reed; Michael P Whyte; Hal Landy; Cheryl R Greenberg
Journal:  JIMD Rep       Date:  2013-04-12

5.  An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

Authors:  Nara Sobreira; Peggy Modaff; Gary Steel; Jing You; Sonia Nanda; Julie Hoover-Fong; David Valle; Richard M Pauli
Journal:  Am J Med Genet A       Date:  2014-10-27       Impact factor: 2.802

6.  Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

Authors:  Agnès Taillandier; Christelle Domingues; Clémence De Cazanove; Valérie Porquet-Bordes; Sophie Monnot; Tina Kiffer-Moreira; Agnès Rothenbuhler; Pascal Guggenbuhl; Catherine Cormier; Geneviève Baujat; Françoise Debiais; Yline Capri; Martine Cohen-Solal; Philippe Parent; Jean Chiesa; Anne Dieux; Florence Petit; Joelle Roume; Monica Isnard; Valérie Cormier-Daire; Agnès Linglart; José Luis Millán; Jean-Pierre Salles; Christine Muti; Brigitte Simon-Bouy; Etienne Mornet
Journal:  Mol Genet Metab       Date:  2015-09-30       Impact factor: 4.797

Review 7.  Hypophosphatasia.

Authors:  Agnès Linglart; Martin Biosse-Duplan
Journal:  Curr Osteoporos Rep       Date:  2016-06       Impact factor: 5.096

8.  Hypophosphatasia may lead to bone fragility: don't miss it.

Authors:  Pierre Moulin; Frédéric Vaysse; Eric Bieth; Etienne Mornet; Isabelle Gennero; Sara Dalicieux-Laurencin; Christiane Baunin; Marie Thérèse Tauber; Jérôme Sales De Gauzy; Jean Pierre Salles
Journal:  Eur J Pediatr       Date:  2008-09-26       Impact factor: 3.183

9.  Bilateral transverse (Bowdler) fibular spurs with hypophosphatasia in an adolescent girl.

Authors:  Ismail Uras; Nurdan Uras; Ahmet Karadag; Osman Yuksel Yavuz; Hakan Atalar
Journal:  Korean J Radiol       Date:  2005 Jan-Mar       Impact factor: 3.500

10.  Prosthetic rehabilitation of hypophosphatasia: a case report.

Authors:  Bora Bağiş; Esra Baltacioğlu; Elif Aydoğan; Evşen Tamam
Journal:  Cases J       Date:  2008-12-12
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