Literature DB >> 8898129

The 'small-patella' syndrome. Hereditary osteodysplasia of the knee, pelvis and foot.

F Dellestable1, P Péré, A Blum, D Régent, A Gaucher.   

Abstract

We describe a syndrome combining abnormalities of the pelvis, knee and foot in three related patients with a familial history of small dislocated patellae. The clinical and radiological appearance of the patella and pelvis is consistent with the 'small-patella' syndrome, a rare autosomal dominant disorder. There were also previously unreported deformities affecting the feet.

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Year:  1996        PMID: 8898129

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


  3 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.  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

  3 in total

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