Literature DB >> 7338549

Hirschsprung megacolon and cleft palate in two sibs.

R B Goldberg, R J Shprintzen.   

Abstract

We describe a brother and sister with microcephaly, hypertelorism, short stature, submucous cleft palate, learning problems, and Hirschsprung aganglionic megacolon (HAM). Literature review failed to show any previous cases combining the above features.

Entities:  

Mesh：

Year:  1981        PMID： 7338549

Source DB:  PubMed          Journal:  J Craniofac Genet Dev Biol        ISSN： 0270-4145


  17 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome.

Authors:  Michael Joseph Kluk; Yu An; Philip James; David Coulter; David Harris; Bai-Lin Wu; Yiping Shen
Journal:  J Mol Diagn       Date:  2011-05       Impact factor: 5.568

3.  Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Authors:  William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher A Walsh; Richard J Leventer; Christa L Martin; Marzena Gajecka; Lisa G Shaffer
Journal:  Am J Med Genet A       Date:  2008-07-01       Impact factor: 2.802

4.  Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

Authors:  Stéphanie Valence; Karine Poirier; Nicolas Lebrun; Yoann Saillour; Pascale Sonigo; Bettina Bessières; Tania Attié-Bitach; Alexandra Benachi; Cécile Masson; Ferechté Encha-Razavi; Jamel Chelly; Nadia Bahi-Buisson
Journal:  Neurogenetics       Date:  2013-09-27       Impact factor: 2.660

5.  Hirschsprung's disease, distinctive facies, and microcephaly.

Authors:  A Bankier
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

6.  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

7.  Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Authors:  Alice S Brooks; Aida M Bertoli-Avella; Grzegorz M Burzynski; Guido J Breedveld; Jan Osinga; Ludolf G Boven; Jane A Hurst; Grazia M S Mancini; Maarten H Lequin; Rene F de Coo; Ivana Matera; Esther de Graaff; Carel Meijers; Patrick J Willems; Dick Tibboel; Ben A Oostra; Robert M W Hofstra
Journal:  Am J Hum Genet       Date:  2005-05-09       Impact factor: 11.025

8.  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 9.  Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2012-09-23       Impact factor: 1.827

Review 10.  [Syndromic Hirschsprung′s disease and its mode of inheritance].

Authors:  Jing-Ru Zhang; Zhi-Bo Zhang
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2018-05
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