Literature DB >> 7433666

Acromesomelic dysplasia.

L O Langer, R T Garrett.   

Abstract

The radiographic features of acromesomelic dysplasia are presented, along with a summary of pertinent clinical features. They are thought to allow a diagnosis in affected individuals over six months of age. Since the condition has an autosomal recessive mode of genetic transmission and results in extremely short stature, the establishment of the diagnosis has practical importance.

Entities:  

Mesh：

Year:  1980        PMID： 7433666     DOI： 10.1148/radiology.137.2.7433666

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


  9 in total

Review 1.  TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.

Authors:  Elena Gallo MacFarlane; Julia Haupt; Harry C Dietz; Eileen M Shore
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-11-01       Impact factor: 10.005

2.  Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.

Authors:  Priyanka Srivastava; Moni Tuteja; Ashwin Dalal; Kausik Mandal; Shubha R Phadke
Journal:  J Genet       Date:  2016-12       Impact factor: 1.166

3.  Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

Authors:  Cynthia F Bartels; Hulya Bükülmez; Pius Padayatti; David K Rhee; Conny van Ravenswaaij-Arts; Richard M Pauli; Stefan Mundlos; David Chitayat; Ling-Yu Shih; Lihadh I Al-Gazali; Sarina Kant; Trevor Cole; Jenny Morton; Valérie Cormier-Daire; Laurence Faivre; Melissa Lees; Jeremy Kirk; Geert R Mortier; Jules Leroy; Bernhard Zabel; Chong Ae Kim; Yanick Crow; Nancy E Braverman; Focco van den Akker; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2004-05-14       Impact factor: 11.025

4.  Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

Authors:  S G Kant; A Polinkovsky; S Mundlos; B Zabel; R T Thomeer; H M Zonderland; L Shih; A van Haeringen; M L Warman
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

5.  Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia.

Authors:  Rudrashish Haldar; Prakhar Gyanesh; Sukhen Samanta
Journal:  J Anaesthesiol Clin Pharmacol       Date:  2013-10

6.  Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.

Authors:  Saadullah Khan; Raja Hussain Ali; Sanaullah Abbasi; Muhammad Nawaz; Noor Muhammad; Wasim Ahmad
Journal:  BMC Med Genet       Date:  2012-06-12       Impact factor: 2.103

7.  The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM).

Authors:  Frederic Shapiro; Lauren Barone; Andrew Johnson; Evelyn Flynn
Journal:  BMC Musculoskelet Disord       Date:  2014-10-15       Impact factor: 2.362

8.  Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.

Authors:  Eun Jin Woo; Won-Joon Lee; Kyung-Seok Hu; Jae Joon Hwang
Journal:  PLoS One       Date:  2015-10-21       Impact factor: 3.240

9.  A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants.

Authors:  Oliver Murch; Vani Jain; Amaka C Offiah
Journal:  Radiol Case Rep       Date:  2021-06-14
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.