Literature DB >> 3981578

Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.

S A Al-Awadi, A S Teebi, T I Farag, K M Naguib, M Y el-Khalifa.   

Abstract

A newly recognised profound limb deficiency malformation syndrome in two Arab sibs of different sexes with consanguineous parents is described. Additional features, which include thoracic dystrophy, unusual facies, and normal intelligence, are consistent in both of them. Autosomal recessive inheritance is suggested.

Entities:  

Mesh：

Year:  1985        PMID： 3981578      PMCID： PMC1049375          DOI： 10.1136/jmg.22.1.36

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


  1 in total

1.  [Defects of the femur and fibula with amelia, peromelia or ulnar defects of the arm. A syndrome].

Authors:  D Kühne; W Lenz; D Petersen; H Schönenberg
Journal:  Humangenetik       Date:  1967
  1 in total
  11 in total

1.  A variant or a "new" postaxial acrofacial dysostosis syndrome.

Authors:  Jerzy Sułko; Dariusz Kotulski; Kazimierz Kozlowski
Journal:  Eur J Pediatr       Date:  2008-02-20       Impact factor: 3.183

Review 2.  Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

Authors:  A Raas-Rothschild; R M Goodman; S Meyer; M B Katznelson; S T Winter; E Gross; M Tamarkin; T Ben-Ami; L Nebel; S Mashiach
Journal:  J Med Genet       Date:  1988-10       Impact factor: 6.318

3.  Tetra-phocomelia: the seal limb deformity - a case report.

Authors:  Sunil Kumar Samal; Setu Rathod; Seetesh Ghose
Journal:  J Clin Diagn Res       Date:  2015-02-01

4.  Limb/pelvis/uterus-hypoplasia/aplasia syndrome.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  The possible Middle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndrome.

Authors:  M A Sabry
Journal:  J Med Genet       Date:  1994-11       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

Review 7.  Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology.

Authors:  Zeng Zhang; Dan Yi; Rong Xie; John L Hamilton; Qing-Lin Kang; Di Chen
Journal:  Ann N Y Acad Sci       Date:  2017-10-09       Impact factor: 5.691

Review 8.  Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.

Authors:  G Camera; G Ferraiolo; D Leo; A Spaziale; S Pozzolo
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

Review 9.  The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

Authors:  T I Farag; S A al-Awadi; M J Marafie; L Bastaki; S A al-Othman; F M Mohammed; I S AlSuliman; D S Murthy
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

10.  FFU complex: an analysis of 491 cases.

Authors:  W Lenz; M Zygulska; J Horst
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132
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