Literature DB >> 438269

The "small patella" syndrome.

J E Scott, W S Taor.   

Abstract

Twelve closely related members of one family were found to have small or absent patellae. Seven of these patients also had abnormalities of the pelvic girdle and upper femora. There was a resemblance to the nail--patella syndrome in the patellar abnormalities but not in the associated conditions, and it would therefore appear that the syndrome described is a new variety of congenital abnormality of the knee.

Entities:  

Mesh:

Year:  1979        PMID: 438269

Source DB:  PubMed          Journal:  J Bone Joint Surg Br        ISSN: 0301-620X


  10 in total

1.  Nail-patella syndrome in Saudi Arabia with new features and surgical procedures: the first described study.

Authors:  Abdullah H A Juma
Journal:  MedGenMed       Date:  2004-04-27

2.  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

3.  Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.

Authors:  C Braegger; A Bottani; F Hallé; A Giedion; E Leumann; R Seger; U Willi; A Schinzel
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

4.  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

5.  Isolated unilateral absent patella and contralateral small patella.

Authors:  Fatih Duygun; Omer Sertkaya; Cengiz Aldemir; Ali Doğan
Journal:  BMJ Case Rep       Date:  2013-09-03

6.  Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.

Authors:  M Mangino; O Sanchez; I Torrente; A De Luca; F Capon; G Novelli; B Dallapiccola
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

7.  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

Review 8.  Genetics of the patella.

Authors:  Mark E Samuels; Philippe M Campeau
Journal:  Eur J Hum Genet       Date:  2019-01-21       Impact factor: 4.246

9.  Broad spectrum of skeletal malformation complex in patients with cleidocranial dysplasia syndrome: radiographic and tomographic study.

Authors:  Ali Al Kaissi; Farid Ben Chehida; Vladimir Kenis; Rudolf Ganger; Christof Radler; Jochen G Hofstaetter; Klaus Klaushofer; Franz Grill
Journal:  Clin Med Insights Arthritis Musculoskelet Disord       Date:  2013-08-19

10.  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
  10 in total

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