Literature DB >> 2721025

Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients.

K H Chrzanowska1, J P Fryns, M Krajewska-Walasek, L Wisniewski, H Van den Berghe.   

Abstract

In this report we present two unrelated patients with the postaxial dysostosis syndrome (Miller syndrome) and document further the phenotypic variability of the craniofacial stigmata and of the postaxial (and preaxial) upper and lower limb reduction anomalies.

Entities:  

Mesh：

Year:  1989        PMID： 2721025     DOI： 10.1111/j.1399-0004.1989.tb02922.x

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


  4 in total

1.  A variant or a "new" postaxial acrofacial dysostosis syndrome.

Authors:  Jerzy Sułko; Dariusz Kotulski; Kazimierz Kozlowski
Journal:  Eur J Pediatr       Date:  2008-02-20       Impact factor: 3.183

2.  Anaesthetic management of Miller's syndrome.

Authors:  G W Stevenson; S C Hall; B S Bauer; F A Vicari; F L Seleny
Journal:  Can J Anaesth       Date:  1991-11       Impact factor: 5.063

3.  Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.

Authors:  A L Ogilvy-Stuart; A C Parsons
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

4.  Orodental findings in postaxial acrofacial dysostosis.

Authors:  Aadithya B Urs; Priya Kumar; Kalpana Nunia
Journal:  J Oral Maxillofac Pathol       Date:  2014-01
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.