RGUHS Nat. J. Pub. Heal. Sci Vol: 15 Issue: 1 eISSN: pISSN
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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.
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).
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