Literature DB >> 3389972

[Hypochondroplasia. Review of 80 cases].

P Maroteaux1, P Falzon.   

Abstract

The review of 80 unpublished cases of hypochondroplasia revealed the difficulty of the diagnosis. A careful clinical and radiological study is necessary. The diagnosis is especially difficult if the spine is normal. Hypochondroplasia is also close to minor forms of achondroplasia. The transmission is autosomal dominant and the paternal age is increased like in the achondroplasia.

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Mesh:

Year:  1988        PMID: 3389972

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


  4 in total

1.  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

2.  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

3.  Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

Authors:  Hüseyin Anıl Korkmaz; Filiz Hazan; Ceyhun Dizdarer; Ajlan Tükün
Journal:  J Clin Res Pediatr Endocrinol       Date:  2012-11-12

4.  Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia

Authors:  Tuğba Çetin; Zeynep Şıklar; Pınar Kocaay; Merih Berberoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2018-05-09
  4 in total

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