Literature DB >> 2248286

Chondrodysplasia punctata, tibia-metacarpal (MT) type.

M Rittler1, H Menger, J Spranger.   

Abstract

We describe 7 patients with a new form of chondrodysplasia punctata. Its principal clinical manifestations are flat midface and nose, short limbs, and otherwise normal development. Consistent radiologic manifestations in the newborn infant are discrete calcific stippling, coronal clefts of vertebral bodies, short tibiae, and shortness of the 2nd and 3rd metacarpal bones. Radiologic findings in the older child include shortness of tibiae and the 3rd and 4th metacarpals.

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Year:  1990        PMID: 2248286     DOI: 10.1002/ajmg.1320370208

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


  7 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.

Authors:  L Van Maldergem; M Espeel; F Roels; C Petit; G Dacremont; R J Wanders; A Verloes; Y Gillerot
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

3.  Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction.

Authors:  Osamu Miyazaki; Gen Nishimura; Haruhiko Sago; Noriyoshi Watanabe; Shunsuke Ebina
Journal:  Pediatr Radiol       Date:  2007-09-06

Review 4.  Punctate epiphyses: a radiological sign not a disease.

Authors:  A K Poznanski
Journal:  Pediatr Radiol       Date:  1994

5.  Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?

Authors:  N Elçioglu; C M Hall
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

Review 6.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

7.  Progressive joint limitations as the first alarming signs in a boy with short - limbed dwarfism: A case report.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  Cases J       Date:  2008-08-19
  7 in total

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