Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)

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 vi...

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Detalles Bibliográficos
Autores principales: Jutur, Pramod Setty, Kumar, Chandan Pramod, Goroshi, Shetteppa
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2010
Materias:
Obstetric
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2890924/
https://www.ncbi.nlm.nih.gov/pubmed/20607029
http://dx.doi.org/10.4103/0971-3026.63044
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author Jutur, Pramod Setty
Kumar, Chandan Pramod
Goroshi, Shetteppa
author_facet Jutur, Pramod Setty
Kumar, Chandan Pramod
Goroshi, Shetteppa
author_sort Jutur, Pramod Setty
collection PubMed
description 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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spelling pubmed-28909242010-07-06 Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome) Jutur, Pramod Setty Kumar, Chandan Pramod Goroshi, Shetteppa Indian J Radiol Imaging Obstetric 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. Medknow Publications 2010-05 /pmc/articles/PMC2890924/ /pubmed/20607029 http://dx.doi.org/10.4103/0971-3026.63044 Text en © Indian Journal of Radiology and Imaging http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Obstetric
Jutur, Pramod Setty
Kumar, Chandan Pramod
Goroshi, Shetteppa
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)
title Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)
title_full Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)
title_fullStr Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)
title_full_unstemmed Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)
title_short Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)
title_sort case report: short rib polydactyly syndrome - type 2 (majewski syndrome)
topic Obstetric
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2890924/
https://www.ncbi.nlm.nih.gov/pubmed/20607029
http://dx.doi.org/10.4103/0971-3026.63044
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AT goroshishetteppa casereportshortribpolydactylysyndrometype2majewskisyndrome

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