Literature DB >> 18057685

Short rib polydactyly syndrome - type 2 (Majewski).

Vrinda Nair1, K L Prakash, B Vishnu Bhat.   

Abstract

Short rib polydactyly syndromes (SRPS) are a group of inherited autosomal recessive skeletal dysplasias. It is characterized by the triad of micromelia, polydactyly and short horizontal ribs with or without visceral involvement. We report a case of SRPS-2 in a fresh stillborn and discuss the differential diagnosis.

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Year:  2007        PMID： 18057685     DOI： 10.1007/s12098-007-0189-5

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  6 in total

Review 1.  An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies.

Authors:  I C Verma; S Bhargava; S Agarwal
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies.

Authors:  R M Saldino; C D Noonan
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1972-02

3.  Short rib-polydactyly syndrome type 3.

Authors:  P Naumoff; L W Young; J Mazer; A J Amortegui
Journal:  Radiology       Date:  1977-02       Impact factor: 11.105

4.  Short rib-polydactyly syndrome: a case report.

Authors:  Münevver Türkmen; Kübra Temoçin; Cağlar Acar; Edi Levi; Can Karaman; Gülten Inan; Nursel Elçioğlu
Journal:  Turk J Pediatr       Date:  2003 Oct-Dec       Impact factor: 0.552

5.  Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases.

Authors:  M C Silengo; G L Bell; M Biagioli; P Franceschini
Journal:  Clin Genet       Date:  1987-05       Impact factor: 4.438

6.  Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.

Authors:  M Urioste; M L Martínez-Frías; E Bermejo; N Jiménez; D Romero; C Nieto; A Villa
Journal:  Am J Med Genet       Date:  1994-01-01
  6 in total
  1 in total

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

Authors:  Pramod Setty Jutur; Chandan Pramod Kumar; Shetteppa Goroshi
Journal:  Indian J Radiol Imaging       Date:  2010-05
  1 in total

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