Literature DB >> 6258433

The Dubowitz syndrome: further observations.

W W Orrison, E R Schnitzler, R W Chun.   

Abstract

An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe syndactyly, and characteristic facial appearance is now recognized as the Dubowitz syndrome. Five addition additional cases of the Dubowitz syndrome are reported, including 2 with documented vascular abnormalities.

Entities:  

Mesh：

Year:  1980        PMID： 6258433     DOI： 10.1002/ajmg.1320070209

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


  8 in total

1.  Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

Authors:  S Lyonnet; G Schwartz; G Gatin; Y de Prost; A Munnich; M Le Merrer
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

2.  The Dubowitz syndrome.

Authors:  W Küster; F Majewski
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

3.  The diagnosis of Dubowitz syndrome in the neonatal period--a case report.

Authors:  A Shuper; P Merlob; R Weitz; I Varsano
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

Review 4.  Stunted growth with more or less normal appearance.

Authors:  J R Bierich; H Enders; U Heinrich; R Huenges; M B Ranke; D Schoenberg
Journal:  Eur J Pediatr       Date:  1982-12       Impact factor: 3.183

5.  Fatal aplastic anaemia in a child with features of Dubowitz syndrome.

Authors:  F Berthold; W Fuhrmann; F Lampert
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

6.  Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

Authors:  Andrea Ballini; Stefania Cantore; Domenica Tullo; Apollonia Desiate
Journal:  J Med Case Rep       Date:  2011-01-27

7.  Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features.

Authors:  Rebekah S Huber; Daniel Houlihan; Kevin Filter
Journal:  J Clin Med Res       Date:  2011-07-26

8.  Identification of the DNA repair defects in a case of Dubowitz syndrome.

Authors:  Jingyin Yue; Huimei Lu; Shijie Lan; Jingmei Liu; Mark N Stein; Bruce G Haffty; Zhiyuan Shen
Journal:  PLoS One       Date:  2013-01-25       Impact factor: 3.240
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.