Literature DB >> 6846395

Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg.

A Richieri-Costa, T R Gollop, P G Otto.   

Abstract

We report two Brazilian families with children who had anophthalmia and multiple congenital abnormalities and consanguineous parents. Among the five affected children, four had bilateral and one had unilateral anophthalmia. Autosomal recessive inheritance is demonstrated.

Entities:  

Mesh：

Year:  1983        PMID： 6846395     DOI： 10.1002/ajmg.1320140403

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


  5 in total

1.  Multiple malformations in a newborn goat.

Authors:  C Gutierrez; J L Rodriguez; E Castellano; E Palomino; J A Corbera; J A Montoya
Journal:  Can Vet J       Date:  2000-07       Impact factor: 1.008

2.  Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Authors:  Hana Abouzeid; Gaëlle Boisset; Tatiana Favez; Mohamed Youssef; Iman Marzouk; Nihal Shakankiry; Nader Bayoumi; Patrick Descombes; Céline Agosti; Francis L Munier; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2010-12-30       Impact factor: 11.025

3.  Pulmonary alveolar microlithiasis in children.

Authors:  H Schmidt; U Lörcher; R Kitz; S Zielen; P Ahrens; R König
Journal:  Pediatr Radiol       Date:  1996

Review 4.  Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology.

Authors:  Zeng Zhang; Dan Yi; Rong Xie; John L Hamilton; Qing-Lin Kang; Di Chen
Journal:  Ann N Y Acad Sci       Date:  2017-10-09       Impact factor: 5.691

5.  Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Authors:  Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al-Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; Andre Mégarbané; C Nur Semerci; Ayesha Khan; Saemah Zafar; Raoul Hennekam; Sérgio B Sousa; Lina Ramos; Livia Garavelli; Andrea Superti Furga; Anita Wischmeijer; Ian J Jackson; Gabriele Gillessen-Kaesbach; Han G Brunner; Dagmar Wieczorek; Hans van Bokhoven; David R Fitzpatrick
Journal:  PLoS Genet       Date:  2011-07-07       Impact factor: 5.917
  5 in total

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