Literature DB >> 15107523

Short rib polydactyly syndrome-Type I.

S Sridhar1, Ravi Kishore, Niranjan Thomas, Atanu Kumar Jana.   

Abstract

Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities. The authors report a case of SRPS in a fresh stillborn baby who had these features along with dysplastic kidneys. Clinical and radiological findings in this baby were consistent with SRPS - Type I (Saldino-Noonan Type). The diagnosis of SRPS, as in this case, can be made by antenatal ultrasonography.

Entities:  

Mesh：

Year:  2004        PMID： 15107523     DOI： 10.1007/bf02724109

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


  9 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.  Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.

Authors:  N C Ho; C A Francomano; M van Allen
Journal:  Am J Med Genet       Date:  2000-02-14

Review 5.  Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.

Authors:  I W Lurie
Journal:  Am J Med Genet       Date:  1994-05-01

6.  A new short rib syndrome: report of two cases.

Authors:  F A Beemer; L O Langer; J M Klep-de Pater; A M Hemmes; J B Bylsma; R M Pauli; T L Myers; C C Haws
Journal:  Am J Med Genet       Date:  1983-01

7.  Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity?

Authors:  M L Martínez-Frías; E Bermejo; M Urioste; J Egüés; J A López Soler
Journal:  Am J Med Genet       Date:  1993-10-01

8.  Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report.

Authors:  I Meizner; Y Barnhard
Journal:  Prenat Diagn       Date:  1995-07       Impact factor: 3.050

9.  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
  9 in total
  1 in total

1.  Spectrum of severe skeletal dysplasias in North India.

Authors:  Ratna D Puri; Seema Thakur; I C Verma
Journal:  Indian J Pediatr       Date:  2007-11       Impact factor: 1.967
  1 in total

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