Literature DB >> 8882778

Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome).

M J Seller1, T B Davis, C N Fear, F A Flinter, I Ellis, A G Gibson.   

Abstract

We describe two sibs with pulmonary hypoplasia and anophthalmia; one also had a number of other malformations. Only one other broadly similar case could be found in the literature, and it was an isolated occurrence. The condition is named the Matthew-Wood syndrome.

Entities:  

Mesh：

Year:  1996        PMID： 8882778     DOI： 10.1002/(SICI)1096-8628(19960329)62:3<227::AID-AJMG5>3.0.CO;2-Q

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


  7 in total

1.  Systems biology of facial development: contributions of ectoderm and mesenchyme.

Authors:  Joan E Hooper; Weiguo Feng; Hong Li; Sonia M Leach; Tzulip Phang; Charlotte Siska; Kenneth L Jones; Richard A Spritz; Lawrence E Hunter; Trevor Williams
Journal:  Dev Biol       Date:  2017-03-29       Impact factor: 3.582

2.  Newborn with anophthalmia and features of Fryns syndrome.

Authors:  Diane M Pierson; Antonio Subtil; Eugenio Taboada; Merlin G Butler
Journal:  Pediatr Dev Pathol       Date:  2002-10-14

3.  Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

Authors:  Christelle Golzio; Jelena Martinovic-Bouriel; Sophie Thomas; Soumaya Mougou-Zrelli; Bettina Grattagliano-Bessieres; Maryse Bonniere; Sophie Delahaye; Arnold Munnich; Ferechte Encha-Razavi; Stanislas Lyonnet; Michel Vekemans; Tania Attie-Bitach; Heather C Etchevers
Journal:  Am J Hum Genet       Date:  2007-04-11       Impact factor: 11.025

4.  Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

Authors:  Francesca Pasutto; Heinrich Sticht; Gerhard Hammersen; Gabriele Gillessen-Kaesbach; David R Fitzpatrick; Gudrun Nürnberg; Frank Brasch; Heidemarie Schirmer-Zimmermann; John L Tolmie; David Chitayat; Gunnar Houge; Lorena Fernández-Martínez; Sarah Keating; Geert Mortier; Raoul C M Hennekam; Axel von der Wense; Anne Slavotinek; Peter Meinecke; Pierre Bitoun; Christian Becker; Peter Nürnberg; André Reis; Anita Rauch
Journal:  Am J Hum Genet       Date:  2007-01-29       Impact factor: 11.025

5.  Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

Authors:  Xiaohui Zhang; Shiqiang Li; Xueshan Xiao; Xiaoyun Jia; Panfeng Wang; Huangxuan Shen; Xiangming Guo; Qingjiong Zhang
Journal:  Mol Vis       Date:  2009-12-27       Impact factor: 2.367

6.  Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

Authors:  Tristan White; Tianyi Lu; Ravikanth Metlapally; James Katowitz; Femida Kherani; Tian-Yuan Wang; Khanh-Nhat Tran-Viet; Terri L Young
Journal:  Mol Vis       Date:  2008-12-26       Impact factor: 2.367

7.  Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Authors:  Jie Zhou; Femida Kherani; Tanya M Bardakjian; James Katowitz; Nkecha Hughes; Lisa A Schimmenti; Adele Schneider; Terri L Young
Journal:  Mol Vis       Date:  2008-03-24       Impact factor: 2.367
  7 in total

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