Literature DB >> 3282726

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

B Weisselberg1, T Ben-Ami, R M Goodman.   

Abstract

A detailed account is given of a 19-month-old female infant with partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. Although the etiology is unknown, we believe this constellation of findings, which has been reported previously, represents a new congenital malformation syndrome.

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Year:  1988        PMID: 3282726     DOI: 10.1111/j.1399-0004.1988.tb03442.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  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?

Authors:  M A Sabry; Q al-Saleh; R al-Saw'an; S A al-Awadi; T I Farag
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318

Review 2.  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

3.  Human malformations similar to those in the mouse mutation disorganization (Ds).

Authors:  N H Robin; O O Adewale; D McDonald-McGinn; J H Nadeau; E H Zackai; M Bućan
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

4.  A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice.

Authors:  Jessica A Lehoczky; Peedikayil E Thomas; Kevin M Patrie; Kailey M Owens; Lisa M Villarreal; Kenneth Galbraith; Joe Washburn; Craig N Johnson; Bryant Gavino; Alexander D Borowsky; Kathleen J Millen; Paul Wakenight; William Law; Margaret L Van Keuren; Galina Gavrilina; Elizabeth D Hughes; Thomas L Saunders; Lesil Brihn; Joseph H Nadeau; Jeffrey W Innis
Journal:  PLoS Genet       Date:  2013-12-05       Impact factor: 5.917

  4 in total

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