Literature DB >> 964999

Acromesomelic dwarfism: description of a patient and comparison with previously reported cases.

A G Hunter, M W Thompson.   

Abstract

A woman is described who has a severe bone dysplasia confined to the limbs. The degree of involvement is more marked in the distal bones. Her forearms and legs are short; the fibulae are represented by distal triangular remnants; the metacarpals are short, several phalanges in the fingers are absent; and the toes are represented by "ball-like" remnants containing a single bone. The findings in our patient are compared to previously reported cases of acromesomelic dwarfism.

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Year:  1976        PMID: 964999     DOI: 10.1007/BF00284447

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  6 in total

1.  Nonlethal achondrogenesis (Grebe-Quelce-Salgado type) in two Puerto Rican sibships.

Authors:  J M García-tcastro; A Pérez-Comas
Journal:  J Pediatr       Date:  1975-12       Impact factor: 4.406

2.  A NEW TYPE OF DWARFISM WITH VARIOUS BONE APLASIAS AND HYPOPLASIAS OF THE EXTREMITIES.

Authors:  A QUELCE-SALGADO
Journal:  Acta Genet Stat Med       Date:  1964

3.  Nievergelt syndrome (mesomelic dwarfism-type Nievergelt).

Authors:  L W Young; B P Wood
Journal:  Birth Defects Orig Artic Ser       Date:  1974

4.  Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli.

Authors:  P Beighton
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

5.  [Statural deficiency with micromesomelia. Report of 2 familial cases].

Authors:  E Campailla; B Martinelli
Journal:  Minerva Ortop       Date:  1971-05

6.  [Acromesomelic dwarfism].

Authors:  P Maroteaux; B Martinelli; E Campailla
Journal:  Presse Med       Date:  1971-10-09       Impact factor: 1.228

  6 in total
  5 in total

Review 1.  Changes in clinical practice with the unravelling of diseases: connective-tissue disorders.

Authors:  J Spranger
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

Review 2.  BMP signalling in skeletal development, disease and repair.

Authors:  Valerie S Salazar; Laura W Gamer; Vicki Rosen
Journal:  Nat Rev Endocrinol       Date:  2016-02-19       Impact factor: 43.330

3.  A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.

Authors:  L O Langer; J Cervenka; M Camargo
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

4.  Severe short-limb dwarfism resembling Grebe chondrodysplasia.

Authors:  A S Teebi; S A Al-Awadi; J M Opitz; J Spranger
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132

5.  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 in total

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