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RGUHS Nat. J. Pub. Heal. Sci Vol: 14  Issue: 1 eISSN:  pISSN

Case Report

Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy': In 3 siblings with unusual Association

Akhil M Kulkarni1 , Muralidhar L Kulkarni2 , Vijay Kumar Sukhani 3, Suhasini V Kulkarni4 , Sanjana KK 5, Chandan Giriyappa6

1Assistant Professor , Department of Radiodiagnosis, SSIMS & RC. Davangere.

2 Professor & Head of the Department Pediatrics , Post graduate 4, Resident Department of Pediatrics5 , J.J.M.Medical College, Davangere

3 Assistant Professor , Department of Pediatrics, Raichur Institute of Medical Sciences, Raichur,

6 Assistant Professor , Department of Radiodiagnosis, AIMS, Bellur.

Year: 2012, Volume: 2, Issue: 1, Page no. 56-60,
Views: 701, Downloads: 6
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CC BY NC 4.0 ICON
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0.
Abstract

We report a case series of Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) in three siblings. SPEDT-PAis a rare autosomal recessive skeletal dysplasia affecting primarily the articular cartilage with characteristic skeletal abnormalities notably in the spine. First reported by Wynne-Davies et al., who estimated it's prevalence to be about 3.4 per million population and an incidence of 1 per 1,00,000 [1]. live births Because of its striking resemblance to juvenile rheumatoid arthritis it has various synonyms like progressive pseudorheumatoid [2]. arthropathy of childhood (PPAC) and progressive pseudorheumatoid dysplasia (PPDA) [MIM No. 208230] In the present context we present three affected siblings of an inbred south Indian Hindu family with one of them having an unique association of Pierre Robin sequence (PRS).

<p>We report a case series of Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) in three siblings. SPEDT-PAis a rare autosomal recessive skeletal dysplasia affecting primarily the articular cartilage with characteristic skeletal abnormalities notably in the spine. First reported by Wynne-Davies et al., who estimated it's prevalence to be about 3.4 per million population and an incidence of 1 per 1,00,000 [1]. live births Because of its striking resemblance to juvenile rheumatoid arthritis it has various synonyms like progressive pseudorheumatoid [2]. arthropathy of childhood (PPAC) and progressive pseudorheumatoid dysplasia (PPDA) [MIM No. 208230] In the present context we present three affected siblings of an inbred south Indian Hindu family with one of them having an unique association of Pierre Robin sequence (PRS).</p>
Keywords
SEDT-PA, PPDA, WISP3 gene, Pierre Robin sequence
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