Literature DB >> 4017279

The FG syndrome: 7 new cases.

E M Thompson, M Baraitser, R H Lindenbaum, Z H Zaidi, J S Kroll.   

Abstract

The X-linked FG syndrome is characterised by mental retardation, congenital hypotonia and constipation (which may both be severe), structural anal anomalies and relative macrocephaly in some, and an unusual and characteristic facial appearance. We describe 7 males from 4 families. One had anal stenosis. Two of the mothers and one sister show probable carrier manifestations. The features of the FG syndrome are individually non-specific. We emphasize that the characteristic combination of features is needed to avoid overdiagnosis.

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Year:  1985        PMID: 4017279     DOI: 10.1111/j.1399-0004.1985.tb02043.x

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


  5 in total

1.  Necropsy findings in a child with FG syndrome.

Authors:  E M Thompson; B N Harding; B D Lake; S C Smith
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

2.  FG syndrome.

Authors:  E Thompson; M Baraitser
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

Review 3.  A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.

Authors:  Kashish Khanna; Shilpa Sharma; Noel Pabalan; Neetu Singh; D K Gupta
Journal:  Pediatr Surg Int       Date:  2017-11-01       Impact factor: 1.827

4.  A missense mutation in CASK causes FG syndrome in an Italian family.

Authors:  Giulio Piluso; Francesca D'Amico; Valentina Saccone; Ettore Bismuto; Ida Luisa Rotundo; Marina Di Domenico; Stefania Aurino; Charles E Schwartz; Giovanni Neri; Vincenzo Nigro
Journal:  Am J Hum Genet       Date:  2009-02-05       Impact factor: 11.025

Review 5.  Associations of anorectal malformations and related syndromes.

Authors:  Sam W Moore
Journal:  Pediatr Surg Int       Date:  2013-04-09       Impact factor: 1.827

  5 in total

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