Literature DB >> 1785632

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.

A Yomo1, T Taira, I Kondo.   

Abstract

We describe a brother and sister with Hirschsprung disease, hypotonia, and ptosis. Their condition resembles that in 2 sibs reported by Goldberg and Shprintzen. We conclude that the clinical characteristics in 8 reported cases with similar clinical manifestations represent a distinct autosomal recessive syndrome, Goldberg-Shprintzen syndrome.

Entities:  

Mesh：

Year:  1991        PMID： 1785632     DOI： 10.1002/ajmg.1320410211

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


  6 in total

1.  Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.

Authors:  K Yamada; Y Yamada; N Nomura; K Miura; R Wakako; C Hayakawa; A Matsumoto; T Kumagai; I Yoshimura; S Miyazaki; K Kato; S Sonta; H Ono; T Yamanaka; M Nagaya; N Wakamatsu
Journal:  Am J Hum Genet       Date:  2001-10-02       Impact factor: 11.025

2.  Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

Authors:  D R Mowat; G D Croaker; D T Cass; B A Kerr; J Chaitow; L C Adès; N L Chia; M J Wilson
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

Review 3.  Mowat-Wilson syndrome.

Authors:  D R Mowat; M J Wilson; M Goossens
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

Review 4.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

5.  Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.

Authors:  Shadab Salehpour; Feyzollah Hashemi-Gorji; Ziba Soltani; Soudeh Ghafouri-Fard; Mohammad Miryounesi
Journal:  Iran J Child Neurol       Date:  2017

6.  Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

Authors:  Katherine C MacKenzie; Bianca M de Graaf; Andreas Syrimis; Yuying Zhao; Erwin Brosens; Grazia M S Mancini; Rachel Schot; Dicky Halley; Martina Wilke; Arve Vøllo; Frances Flinter; Andrew Green; Sahar Mansour; Jacek Pilch; Zornitza Stark; Eleni Zamba-Papanicolaou; Violetta Christophidou-Anastasiadou; Robert M W Hofstra; Jan D H Jongbloed; Nayia Nicolaou; George A Tanteles; Alice S Brooks; Maria M Alves
Journal:  Hum Mutat       Date:  2020-09-16       Impact factor: 4.878
  6 in total

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