Literature DB >> 20055564

Spondyloepiphyseal dysplasia congenita.

Leslie M Turner1, Thora S Steffensen, Jules Leroy, Enid Gilbert-Barness.   

Abstract

We report a case of spondyloepiphyseal dysplasia congenita (SED congenita), diagnosed at autopsy of a term infant. Prenatal ultrasound at 20 weeks of gestation had shown shortening of all the fetal long bones, with bowing of the femora and humeri, clubfeet, and small thoracic cage. We discuss the diagnostic features of SED and the main differential diagnoses.

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Year:  2010        PMID： 20055564     DOI： 10.3109/15513810903266310

Source DB:  PubMed          Journal:  Fetal Pediatr Pathol        ISSN： 1551-3815            Impact factor:   0.958


  3 in total

1.  A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family.

Authors:  Leilei Xu; Xusheng Qiu; Zezhang Zhu; Long Yi; Yong Qiu
Journal:  Eur Spine J       Date:  2014-04-16       Impact factor: 3.134

2.  Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.

Authors:  Xiangjun Huang; Xiong Deng; Hongbo Xu; Song Wu; Lamei Yuan; Zhijian Yang; Yan Yang; Hao Deng
Journal:  PLoS One       Date:  2015-06-01       Impact factor: 3.240

3.  Osteoarthritis in a fifty-year-old patient with unfused skeleton due to undiagnosed coexisting cleidocranial and spondyloepiphyseal dysplasia - Case report.

Authors:  Dr Mahum Zaidi; Sareema Eman Akhtar; Saad Shakil; Dr Muhammad Wasif; Dr Rabiya Siraj; Talal Almas; Joshua Ramjohn; Maha Alkhattab; Reema Ahmed; Tushar Thakur
Journal:  Ann Med Surg (Lond)       Date:  2022-06-28
  3 in total

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