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Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)
oleh: Jutur Pramod, Kumar Chandan, Goroshi Shetteppa
| Format: | Article |
|---|---|
| Diterbitkan: | Thieme Medical and Scientific Publishers Pvt. Ltd. 2010-01-01 |
Deskripsi
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.