Literature DB >> 7036745

Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino).

H Chen, C T Liu, S S Yang.   

Abstract

We describe two dwarfed infants with large head, short neck and chest, prominent abdomen, and short limbs. Both died neonatally. Radiographic and morphologic characteristics identified the Langer-Saldino form of achondrogenesis (type II). Review of type II achondrogenesis documented distinctive clinical and anthropometric manifestations (fewer stillbirths, longer survival time and gestation period, larger size of the baby, longer limbs, and characteristic craniofacial features) as compared with type I achondrogenesis (Parenti-Fraccaro).

Entities:  

Mesh:

Year:  1981        PMID: 7036745     DOI: 10.1002/ajmg.1320100411

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

1.  The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis.

Authors:  S P Feshchenko; I A Rebrin; V P Sokolnik; B M Sher; B P Sokolov; V N Kalinin; G I Lazjuk
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

2.  Hypochondrogenesis.

Authors:  P Maroteaux; V Stanescu; R Stanescu
Journal:  Eur J Pediatr       Date:  1983-10       Impact factor: 3.183

3.  Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.

Authors:  M Godfrey; D R Keene; E Blank; H Hori; L Y Sakai; L A Sherwin; D W Hollister
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

4.  Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible.

Authors:  Martin Biosse Duplan; Davide Komla-Ebri; Yann Heuzé; Valentin Estibals; Emilie Gaudas; Nabil Kaci; Catherine Benoist-Lasselin; Michel Zerah; Ina Kramer; Michaela Kneissel; Diana Grauss Porta; Federico Di Rocco; Laurence Legeai-Mallet
Journal:  Hum Mol Genet       Date:  2016-06-03       Impact factor: 6.150

5.  Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family.

Authors:  Sina Reinartz; Hartmut Mohwinkel; Christian Sürie; Maren Hellige; Karsten Feige; Deborah Eikelberg; Andreas Beineke; Julia Metzger; Ottmar Distl
Journal:  BMC Genomics       Date:  2017-10-10       Impact factor: 3.969

6.  A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.

Authors:  Valentina Bruni; Cristina Barbara Spoleti; Andrea La Barbera; Vincenzo Dattilo; Emma Colao; Carmela Votino; Emanuele Bellacchio; Nicola Perrotti; Sabrina Giglio; Rodolfo Iuliano
Journal:  Genes (Basel)       Date:  2021-09-10       Impact factor: 4.096

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.