Literature DB >> 11200991

Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement.

V Fano1, H Lejarraga, C Barreiro.   

Abstract

A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) is reported. The disease was detected at birth as a congenital dysplasia with generalized lesions. At 10 months of age, abnormal calcifications appeared in both wrists. The patient evolved with severe growth retardation and multiple neurological and respiratory complications, followed by death at 21 months of age.

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Mesh：

Year:  2001        PMID： 11200991     DOI： 10.1007/s002470000359

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  7 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.  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

4.  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

5.  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

6.  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

7.  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
  7 in total

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