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Year : 2010  |  Volume : 20  |  Issue : 2  |  Page : 138-142
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)


Department of Radio Diagnosis, J. J. M. Medical College, Davangere - 577 004, Karnataka, India

Correspondence Address:
Pramod Setty Jutur
Sheetal Diagnostic Centre, Door no 431/1, 4th Main, 7th Cross, P.J. Extension, Davangere 577 002, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.63044

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Short rib polydactyly syndrome (SRPS) type 2 (Majewski syndrome) is a rare inherited, autosomal recessive, lethal skeletal dysplasia characterized by horizontally located short ribs, pre- and postaxial polysyndactyly, and micromelia, with characteristic short ovoid tibiae. There may or may not be visceral involvement. We report a case of SRPS type 2 that was diagnosed by antenatal USG at 28 weeks of gestation; the diagnosis was subsequently confirmed by postnatal radiography, fetal autopsy, and histopathology.


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