Literature DB >> 8818447

Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type.

L I al-Gazali1, D Bakalinova, L Sztriha.   

Abstract

We report two sibs with typical clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb abnormal calcification type. In both, the degree of calcification is more extensive than in the previously reported cases and involved all the epiphyses, ligaments and chondral tissues. Intelligence is normal in both children and the eldest is 8 years old with no complications. The literature is reviewed.

Entities:  

Mesh：

Year:  1996        PMID： 8818447

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  10 in total

1.  Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

Authors:  Katya Rozovsky; Jacob Sosna; Martine Le Merrer; Natalia Simanovsky; Benjamin Z Koplewitz; Jacob Bar-Ziv; Valerie Cormier-Daire; Annick Raas-Rothschild
Journal:  Pediatr Radiol       Date:  2011-08-05

2.  Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

Authors:  Gizem Ürel-Demir; Pelin Ozlem Simsek-Kiper; Özlem Akgün-Doğan; Rahşan Göçmen; Zheng Wang; Naomichi Matsumoto; Noriko Miyake; Gülen Eda Utine; Gen Nishimura; Shiro Ikegawa; Koray Boduroglu
Journal:  J Hum Genet       Date:  2018-06-08       Impact factor: 3.172

3.  MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.

Authors:  L G Shyamasundar; Lakshmi Loganathan; Ashis Kumar; Agnes Selina; Vrisha Madhuri
Journal:  Indian J Pediatr       Date:  2019-11-14       Impact factor: 1.967

4.  Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type.

Authors:  Neerja Gupta; Alec Reginald Errol Correa; Manisha Jana; Madhulika Kabra
Journal:  J Pediatr Genet       Date:  2019-03-12

5.  Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.

Authors:  Elif Yilmaz Gulec; Bassam R Ali; Anne John; Beyhan Tuysuz
Journal:  Mol Syndromol       Date:  2021-09-28

6.  Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.

Authors:  Bassam R Ali; Huifang Xu; Nadia A Akawi; Anne John; Noushad S Karuvantevida; Ruth Langer; Lihadh Al-Gazali; Birgit Leitinger
Journal:  Hum Mol Genet       Date:  2010-03-10       Impact factor: 6.150

7.  Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Authors:  Ruth Bargal; Valerie Cormier-Daire; Ziva Ben-Neriah; Martine Le Merrer; Jacob Sosna; Judith Melki; David H Zangen; Sarah F Smithson; Zvi Borochowitz; Ruth Belostotsky; Annick Raas-Rothschild
Journal:  Am J Hum Genet       Date:  2008-12-24       Impact factor: 11.025

8.  The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.

Authors:  Beyhan Tüysüz; Nurperi Gazioğlu; Savaş Ungür; Dolly Yafet Aji; Seval Türkmen
Journal:  Pediatr Radiol       Date:  2008-11-11

9.  Identification of a novel homozygous mutation in the DDR2 gene from a patient with spondylo-meta-epiphyseal dysplasia by whole exome sequencing.

Authors:  Masoud Heidari; Morteza Soleyman-Nejad; Alireza Isazadeh; Mohammad Hossein Taskiri; Manzar Bolhassani; Nahid Sadighi; Zahra Shiri; Zahra Karimi; Mansour Heidari
Journal:  Iran J Basic Med Sci       Date:  2021-02       Impact factor: 2.699

10.  A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.

Authors:  Adila Al-Kindi; Praseetha Kizhakkedath; Huifang Xu; Anne John; Abeer Al Sayegh; Anuradha Ganesh; Maha Al-Awadi; Lamya Al-Anbouri; Lihadh Al-Gazali; Birgit Leitinger; Bassam R Ali
Journal:  BMC Med Genet       Date:  2014-04-11       Impact factor: 2.103
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.