Literature DB >> 472320

Hypochondroplasia: clinical and radiological aspects in 39 cases.

B D Hall, J Spranger.   

Abstract

A retrospective review of 39 cases of hypochondroplasia revealed consistent but variable degrees of clinical and radiological features sufficient to allow differentiation from other well-established metaphyseal chondrodysplasias. Macrocephaly was noted in approximately half the cases. This contradicts a finding of normocephaly in previous studies.

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Mesh：

Year:  1979        PMID： 472320     DOI： 10.1148/133.1.95

Source DB:  PubMed          Journal:  Radiology        ISSN： 0033-8419            Impact factor:   11.105


  13 in total

Review 1.  Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.

Authors:  Silvie Foldynova-Trantirkova; William R Wilcox; Pavel Krejci
Journal:  Hum Mutat       Date:  2011-11-16       Impact factor: 4.878

2.  Criteria for radiologic diagnosis of hypochondroplasia in neonates.

Authors:  Tomoko Saito; Keisuke Nagasaki; Gen Nishimura; Masaki Wada; Hiromi Nyuzuki; Masaki Takagi; Tomonobu Hasegawa; Naoko Amano; Jun Murotsuki; Hideaki Sawai; Takahiro Yamada; Shuhei Sato; Akihiko Saitoh
Journal:  Pediatr Radiol       Date:  2016-02-11

Review 3.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

4.  The frequency of mental retardation in hypochondroplasia.

Authors:  R Wynne-Davies; M A Patton
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

Review 5.  Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias.

Authors:  Ananya Panda; Shivanand Gamanagatti; Manisha Jana; Arun Kumar Gupta
Journal:  World J Radiol       Date:  2014-10-28

6.  Clinical and genetic heterogeneity of hypochondroplasia.

Authors:  F Rousseau; J Bonaventure; L Legeai-Mallet; H Schmidt; J Weissenbach; P Maroteaux; A Munnich; M Le Merrer
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

7.  Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

Authors:  G A Bellus; E B Spector; P W Speiser; C A Weaver; A T Garber; C R Bryke; J Israel; S S Rosengren; M K Webster; D J Donoghue; C A Francomano
Journal:  Am J Hum Genet       Date:  2000-10-27       Impact factor: 11.025

Review 8.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

9.  Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Authors:  G A Bellus; T W Hefferon; R I Ortiz de Luna; J T Hecht; W A Horton; M Machado; I Kaitila; I McIntosh; C A Francomano
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

10.  Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multiple exostoses.

Authors:  R Dominguez; L W Young; M W Steele; B R Girdany
Journal:  Pediatr Radiol       Date:  1984
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