Literature DB >> 3901752

The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature.

T R Gollop, L R Fontes.   

Abstract

The Greig cephalopolysyndactyly syndrome in characterized by a set of craniofacial defects (macrocephaly, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and syndactyly of fingers and toes. Occasionally other skeletal or nonskeletal defects are present. This is an autosomal dominant trait with complete penetrance and variable expressivity. Prognosis for mental and physical development of the affected patients is good, surgery being indicated primarily for aesthetic and functional correction of polydactyly and syndactyly. We report on a Brazilian family in whom the mother and two of three sons were affected.

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Year:  1985        PMID: 3901752     DOI: 10.1002/ajmg.1320220106

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


  6 in total

1.  The acrocallosal syndrome.

Authors:  N Philip; N Apicella; I Lassman; S Ayme; J F Mattei; F Giraud
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

2.  A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.

Authors:  B S Sayli; A N Akarsu; U Sayli; O Akhan; S Ceylaner; M Sarfarazi
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

3.  A large duplication involving the IHH locus mimics acrocallosal syndrome.

Authors:  Memnune Yuksel-Apak; Nina Bögershausen; Barbara Pawlik; Yun Li; Selcuk Apak; Oya Uyguner; Esther Milz; Gudrun Nürnberg; Birsen Karaman; Ayan Gülgören; Karl-Heinz Grzeschik; Peter Nürnberg; Hülya Kayserili; Bernd Wollnik
Journal:  Eur J Hum Genet       Date:  2012-01-11       Impact factor: 4.246

4.  Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt).

Authors:  A Vortkamp; T Franz; M Gessler; K H Grzeschik
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

5.  Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.

Authors:  A L Pettigrew; F Greenberg; C T Caskey; D H Ledbetter
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

6.  The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.

Authors:  Philippe Debeer; Koen Devriendt; Luc De Smet; Thomy Deravel; Antonio Gonzalez-Meneses; Karl-Heinz Grzeschik; Jean-Pierre Fryns
Journal:  J Child Orthop       Date:  2007-05-10       Impact factor: 1.548

  6 in total

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