Literature DB >> 4045792

[The coxopodopatellar syndrome].

P Morin, C Vielpeau, L Fournier, D Denizet.   

Abstract

Characteristic features of the coxopodopatellar syndrome are patellar hypoplasia, pelvic skeletal anomalies and morphologic abnormalities of the front of foot. Fifteen cases with variable degrees of anomaly were observed in one family. Since a world-wide literature review failed to demonstrate any perfectly identical observation it was considered that this triple lesion constitutes an original syndrome worth reporting in detail.

Entities:  

Mesh:

Year:  1985        PMID: 4045792

Source DB:  PubMed          Journal:  J Radiol        ISSN: 0221-0363


  4 in total

1.  Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.

Authors:  Ariana Kariminejad; Emmanuelle Szenker-Ravi; Caroline Lekszas; Homa Tajsharghi; Ali-Reza Moslemi; Thomas Naert; Hong Thi Tran; Fatemeh Ahangari; Minoo Rajaei; Mojila Nasseri; Thomas Haaf; Afrooz Azad; Andrea Superti-Furga; Reza Maroofian; Siavash Ghaderi-Sohi; Hossein Najmabadi; Mohammad Reza Abbaszadegan; Kris Vleminckx; Pooneh Nikuei; Bruno Reversade
Journal:  Am J Hum Genet       Date:  2019-11-21       Impact factor: 11.025

2.  Nail patella syndrome: a review of the phenotype aided by developmental biology.

Authors:  E Sweeney; A Fryer; R Mountford; A Green; I McIntosh
Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

3.  Mutations in the human TBX4 gene cause small patella syndrome.

Authors:  Ernie M H F Bongers; Pascal H G Duijf; Sylvia E M van Beersum; Jeroen Schoots; Albert Van Kampen; Andreas Burckhardt; Ben C J Hamel; Frantisek Losan; Lies H Hoefsloot; Helger G Yntema; Nine V A M Knoers; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2004-04-21       Impact factor: 11.025

4.  Magnetic Resonance Imaging Findings in Small Patella Syndrome.

Authors:  Hyoung-Soo Kim; Jeong-Hyun Yoo; Noh-Hyuck Park; Jun-Hee Chang; Yun-Seong Ban; Sang-Heon Song
Journal:  Knee Surg Relat Res       Date:  2016-02-29
  4 in total

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