Literature DB >> 18386808

Specific ultrasonographic features of perinatal lethal hypophosphatasia.

Andreas Zankl1, Etienne Mornet, Shell Wong.   

Abstract

Prenatal diagnosis of perinatal lethal hypophosphatasia (PL-HPH) by ultrasonography is difficult as PL-HPH must be differentiated from other skeletal dysplasias with short long bones and poor mineralization of the skeleton, such as osteogenesis imperfecta type II and achondrogenesis/hypochondrogenesis. Here we present a case of molecularly confirmed PL-HPH and illustrate specific ultrasonographic findings that help to distinguish PL-HPH from similar conditions. (c) 2008 Wiley-Liss, Inc.

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Year:  2008        PMID： 18386808     DOI： 10.1002/ajmg.a.32202

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  9 in total

Review 1.  Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality.

Authors:  Kathryn S Milks; Lyndon M Hill; Keyanoosh Hosseinzadeh
Journal:  Pediatr Radiol       Date:  2016-12-01

2.  Normal development of sacrococcygeal centrum ossification centers in the fetal spine: a postmortem magnetic resonance imaging study.

Authors:  Nan Jian; Mi-Mi Tian; Lian-Xiang Xiao; Hui Zhao; Yan Shi; Guan Li; Shuai Zhang; Xiang-Tao Lin
Journal:  Neuroradiology       Date:  2018-07-04       Impact factor: 2.804

3.  Osteogenesis Imperfecta: A Review with Clinical Examples.

Authors:  F S van Dijk; J M Cobben; A Kariminejad; A Maugeri; P G J Nikkels; R R van Rijn; G Pals
Journal:  Mol Syndromol       Date:  2011-10-12

Review 4.  Alkaline Phosphatase Replacement Therapy for Hypophosphatasia in Development and Practice.

Authors:  S A Bowden; B L Foster
Journal:  Adv Exp Med Biol       Date:  2019       Impact factor: 2.622

5.  Prenatal diagnosis of hypophosphatasia congenita using ultrasonography.

Authors:  Ashwitha Guguloth; Yashant Aswani; Karan Manoj Anandpara
Journal:  Ultrasonography       Date:  2015-03-26

6.  Perinatal Hypophosphatasia in a Premature Infant.

Authors:  Deepika Sankaran; Praveen K Chandrasekharan; Munmun Rawat
Journal:  AJP Rep       Date:  2020-04-15

7.  Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases.

Authors:  Akari Nakamura-Utsunomiya; Satoshi Okada; Keiichi Hara; Shinichiro Miyagawa; Kanae Takeda; Rie Fukuhara; Yusei Nakata; Michiko Hayashidani; Kanako Tachikawa; Toshimi Michigami; Keiichi Ozono; Masao Kobayashi
Journal:  Clin Pediatr Endocrinol       Date:  2010-03-11

Review 8.  Neonatal lethal hypophosphatasia: A case report and review of literature.

Authors:  Laura Castells; Pía Cassanello; Felix Muñiz; María-José de Castro; María L Couce
Journal:  Medicine (Baltimore)       Date:  2018-11       Impact factor: 1.817

Review 9.  Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.

Authors:  Amaka C Offiah; Jerry Vockley; Craig F Munns; Jun Murotsuki
Journal:  Pediatr Radiol       Date:  2018-10-03
  9 in total

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