Literature DB >> 1519646

Unusual short rib-polydactyly syndrome.

Y C Tsai1, J M Chang, C C Changchien, H L Eng, W J Chen, C C Lui, C B Huang.   

Abstract

We present a case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS.

Entities:  

Mesh：

Year:  1992        PMID： 1519646     DOI： 10.1002/ajmg.1320440108

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


  3 in total

1.  Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

Authors:  A M Lehman; P Eydoux; D Doherty; I A Glass; D Chitayat; B Y H Chung; S Langlois; S L Yong; R B Lowry; F Hildebrandt; P Trnka
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

2.  Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

Authors:  L I al-Gazali; L Sztriha; A Dawodu; E Varady; M Bakir; A Khdir; J Johansen
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

3.  Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

Authors:  M L Martínez-Frías; E Bermejo; M Urioste; H Huertas; I Arroyo
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.