Literature DB >> 3184141

A probably distinct autosomal recessive thoraco-limb dysplasia.

H Rivera1, J M Perez-Salas, Z Nazara, M L Ramirez.   

Abstract

A Mexican mestizo family is reported in which two opposite sexed sibs, born to consanguineous parents, had a skeletal dysplasia. The salient features were a bell shaped thorax owing to short ribs, short limbed dwarfism, pelvic hypoplasia, dislocatable radial heads, elongated distal fibulae, and improvement with age. It is concluded that the present observation probably represents a distinct autosomal recessive thoraco-limb dysplasia identifiable at birth.

Entities:  

Mesh:

Year:  1988        PMID: 3184141      PMCID: PMC1051540          DOI: 10.1136/jmg.25.9.619

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


  6 in total

1.  Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.

Authors:  F Oberklaid; D M Danks; V Mayne; P Campbell
Journal:  Arch Dis Child       Date:  1977-10       Impact factor: 3.791

2.  A previously undescribed syndrome of thoracic dysplasia and communicating hydrocephalus in two sibs, one diagnosed prenatally by ultrasound.

Authors:  R M Winter; S Campbell; J S Wigglesworth; E J Nevrkla
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

3.  Thoracic-pelvic dysostosis: a 'new' autosomal dominant form.

Authors:  A Bankier; D M Danks
Journal:  J Med Genet       Date:  1983-08       Impact factor: 6.318

4.  Chest reconstruction in thoracic dystrophy.

Authors:  N D Barnes; D Hull; A D Milner; D J Waterston
Journal:  Arch Dis Child       Date:  1971-12       Impact factor: 3.791

5.  Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome.

Authors:  J Burn; C Hall; D Marsden; D J Matthew
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

6.  Necropsy findings in neonatal asphyxiating thoracic dystrophy.

Authors:  S B Turkel; E J Diehl; J A Richmond
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

  6 in total
  1 in total

Review 1.  Congenital and idiopathic scoliosis: clinical and genetic aspects.

Authors:  Philip F Giampietro; Robert D Blank; Cathleen L Raggio; Sajid Merchant; F Stig Jacobsen; Thomas Faciszewski; Sanjay K Shukla; Anne R Greenlee; Cory Reynolds; David B Schowalter
Journal:  Clin Med Res       Date:  2003-04
  1 in total

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