Literature DB >> 7562971

Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

M A Sabry1, Q al-Saleh, R al-Saw'an, S A al-Awadi, T I Farag.   

Abstract

A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.

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Year:  1995        PMID: 7562971      PMCID: PMC1050551          DOI: 10.1136/jmg.32.7.555

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


  13 in total

1.  A CHILD WITH THREE LOWER EXTREMITIES.

Authors:  W H NORMAN
Journal:  J Bone Joint Surg Am       Date:  1964-12       Impact factor: 5.284

2.  Man with three legs.

Authors:  I S SMILLIE; J H MURDOCH
Journal:  J Bone Joint Surg Br       Date:  1952-11

3.  A rare case of caudal duplication.

Authors:  K Takayanagi
Journal:  J Pediatr Surg       Date:  1991-02       Impact factor: 2.545

4.  Baby with a third leg.

Authors:  K Taniguchi; Y Aoki; H Kurimoto; T Okamura
Journal:  J Pediatr Surg       Date:  1975-02       Impact factor: 2.545

5.  Reduplication of bones of lower extremity.

Authors:  K K Srivastava; L D Garg
Journal:  J Bone Joint Surg Am       Date:  1971-10       Impact factor: 5.284

Review 6.  Mechanisms of limb patterning.

Authors:  R L Johnson; R D Riddle; C J Tabin
Journal:  Curr Opin Genet Dev       Date:  1994-08       Impact factor: 5.578

7.  Incomplete congenital duplication of a lower extremity. A case report.

Authors:  E N Hanley; C L Stanitski
Journal:  J Bone Joint Surg Am       Date:  1980-04       Impact factor: 5.284

8.  Partial duplication of the lower limb. A case report.

Authors:  D M Billett; J N Bear
Journal:  J Bone Joint Surg Am       Date:  1978-12       Impact factor: 5.284

Review 9.  A possible human homologue for the mouse mutant disorganisation.

Authors:  R M Winter; D Donnai
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

Review 10.  Partial duplication of the lower limb with agenesis of ipsilateral kidney--a new syndrome: report of a case and review of the literature.

Authors:  B Weisselberg; T Ben-Ami; R M Goodman
Journal:  Clin Genet       Date:  1988-03       Impact factor: 4.438

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  1 in total

1.  Triophthalmia and facial clefting: a case report.

Authors:  S M Tayel; M A Sabry; N A Kader; S Farah; S A Al-Awadi; T I Farag
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

  1 in total

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