Literature DB >> 28386830

Fibrochondrogenesis.

M L Kulkarni1, Prakash S Matadh1, S P Praveen Prabhu2, Preeti M Kulkarni1.   

Abstract

Fibrochondrogenesis is a rare lethal short-limb skeletal dysplasia. Till now only fifteen cases have been reported since Lazzaroni-Fossati first described it in 1978. Hence reported a case of fibrochondrogenesis in a child born to a consanguineously married couple with characteristic physical and radiological features and discuss the incidence, inheritence, ultrasonographic, clinical, radiological and pathological characteristics of this disorder.

Entities:  

Keywords:  Autosomal recessive; Fibrochondrogenesis; Lethal skeletal dysplasia

Year:  2005        PMID: 28386830     DOI: 10.1007/BF02724021

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  15 in total

1.  [Lethal osteochondrodysplasias: prenatal and postnatal differential diagnosis].

Authors:  I Sauer; B Klein; B Leeners; C Cotarelo; W Heyl; A Funk
Journal:  Ultraschall Med       Date:  2000-06       Impact factor: 6.548

Review 2.  [Fibrochondrogenesis].

Authors:  G Nishimura
Journal:  Ryoikibetsu Shokogun Shirizu       Date:  2001

3.  Fetal fibrochondrogenesis at 26 weeks' gestation.

Authors:  Hanitra Randrianaivo; Georges Haddad; Horatiu Roman; Anne Lise Delezoide; Annick Toutain; Martine Le Merrer; Claude Moraine; Anne Lise
Journal:  Prenat Diagn       Date:  2002-09       Impact factor: 3.050

4.  Fibrochondrogenesis in male twins at 24 weeks gestation.

Authors:  A Bankier; D Fortune; J Duke; D O Sillence
Journal:  Am J Med Genet       Date:  1991-01

5.  A new case of fibrochondrogenesis from Spain.

Authors:  M L Martínez-Frías; A García; J Cuevas; J I Rodríguez; M Urioste
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

6.  Fibrochondrogenesis: clinical and radiological features.

Authors:  L I al-Gazali; D Bakalinova; M Bakir; A Dawodu
Journal:  Clin Dysmorphol       Date:  1997-04       Impact factor: 0.816

7.  [Fibrochondrogenesis].

Authors:  F Lazzaroni-Fossati; V Stanescu; R Stanescu; G Serra; P Magliano; P Maroteaux
Journal:  Arch Fr Pediatr       Date:  1978-12

Review 8.  Pathogenic mechanisms in osteochondrodysplasias.

Authors:  V Stanescu; R Stanescu; P Maroteaux
Journal:  J Bone Joint Surg Am       Date:  1984-07       Impact factor: 5.284

9.  Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population.

Authors:  Lihadh I Al-Gazali; Mahmood Bakir; Zuhair Hamid; Elizabeth Varady; Mani Varghes; Danialla Haas; Abdulbari Bener; Rengasamy Padmanabhan; Yousef M Abdulrrazzaq; Adekunle Dawadu; Yeusef M Abdulrrazzzaq; Aden Kula Dawodu
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2003-02

Review 10.  Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis.

Authors:  A Mégarbané; S Haddad; L Berjaoui
Journal:  Am J Perinatol       Date:  1998-07       Impact factor: 1.862

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