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Literature DB >> 8733059

A new case of fibrochondrogenesis from Spain.

M L Martínez-Frías¹, A García, J Cuevas, J I Rodríguez, M Urioste.

Abstract

A rare, neonatally lethal chondrodysplasia with histological characteristics was first described in 1978 and the authors named the condition fibrochondrogenesis. Here we report the eighth published case of fibrochondrogenesis. This was identified in a population of 1,158,067 consecutive livebirths, so we can assume that this figure should be the minimal prevalence for livebirths.

Entities: Disease

Mesh：

Year: 1996 PMID： 8733059 PMCID： PMC1050618 DOI： 10.1136/jmg.33.5.429

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

3 in total

1. [Fibrochondrogenesis].

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

2. Fibrochondrogenesis: radiologic and histologic studies.

Authors: D J Eteson; G E Adomian; A Ornoy; T Koide; Y Sugiura; A Calabro; S Lungarotti; P Mastroiacovo; R S Lachman; D L Rimoin
Journal: Am J Med Genet Date: 1984-10

3. Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.

Authors: C B Whitley; L O Langer; J Ophoven; E F Gilbert; C H Gonzalez; M Mammel; M Coleman; S Rosemberg; C J Rodriques; R Sibley
Journal: Am J Med Genet Date: 1984-10

3 in total

4 in total

1. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Authors: Stuart W Tompson; Carlos A Bacino; Nicole P Safina; Michael B Bober; Virginia K Proud; Tara Funari; Michael F Wangler; Lisette Nevarez; Leena Ala-Kokko; William R Wilcox; David R Eyre; Deborah Krakow; Daniel H Cohn
Journal: Am J Hum Genet Date: 2010-10-28 Impact factor: 11.025

A new case of fibrochondrogenesis from Spain.

1. [Fibrochondrogenesis].

2. Fibrochondrogenesis: radiologic and histologic studies.

3. Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.

1. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

2. Fibrochondrogenesis.

3. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

4. Metatropic dysplasia lethal variants.