Literature DB >> 9217227

Pseudodiastrophic dysplasia type Burgio in a newborn.

R Fischetto1, F Causio, G Corso, V Lillo, B Natale, F Papadia.   

Abstract

Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. We report on a new patient with this rare skeletal dysplasia and two previously undescribed major malformations: omphalocele and complex heart defect.

Entities:  

Mesh：

Year:  1997        PMID： 9217227     DOI： 10.1002/(sici)1096-8628(19970808)71:2<222::aid-ajmg20>3.0.co;2-f

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


  3 in total

1.  Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Authors:  Alicia B Byrne; Shuji Mizumoto; Peer Arts; Patrick Yap; Jinghua Feng; Andreas W Schreiber; Milena Babic; Sarah L King-Smith; Christopher P Barnett; Lynette Moore; Kazuyuki Sugahara; Hatice Mutlu-Albayrak; Gen Nishimura; Jan E Liebelt; Shuhei Yamada; Ravi Savarirayan; Hamish S Scott
Journal:  J Med Genet       Date:  2020-01-27       Impact factor: 6.318

2.  Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.

Authors:  Kai Yang; Yan Liu; Jue Wu; Jing Zhang; Hua-Ying Hu; You-Sheng Yan; Wen-Qi Chen; Shu-Fa Yang; Li-Juan Sun; Yong-Qing Sun; Qing-Qing Wu; Cheng-Hong Yin
Journal:  Genes (Basel)       Date:  2022-09-02       Impact factor: 4.141

3.  Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

Authors:  Chaya Murali; James T Lu; Mahim Jain; David S Liu; Ralph Lachman; Richard A Gibbs; Brendan H Lee; Daniel Cohn; Philippe M Campeau
Journal:  Mol Genet Metab Rep       Date:  2014
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.