Literature DB >> 9133358

Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome.

E M Azouz1, K Kozlowski.   

Abstract

We report a 5-year, 9-month-old boy with bilateral patellar hypoplasia. The radiographic skeletal survey revealed absent ossification of the ischium and inferior pubic ramus on both sides, characteristic of the newly recognized benign bone dysplasia known as small patella syndrome, or ischiopatellar dysplasia. No nail change, iliac horn, elbow anomaly, or renal disease is associated with this condition.

Entities:  

Mesh：

Year:  1997        PMID： 9133358     DOI： 10.1007/s002470050163

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  11 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.  A novel form of ischio-vertebral syndrome.

Authors:  Ali Al Kaissi; Ali Al Kassi; Farid Ben Chehida; Anna Latos-Bielenska; Hassan Gharbi; Maher Ben Ghachem; Lofti Hendaoui; Kazimierz Kozlowski
Journal:  Skeletal Radiol       Date:  2006-03-18       Impact factor: 2.199

4.  Nail-patella syndrome (Fong disease).

Authors:  Scott A Mooney; Johnny U V Monu
Journal:  Pediatr Radiol       Date:  2010-02-09

5.  Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

Authors:  Blake C Ballif; Aaron Theisen; Jill A Rosenfeld; Ryan N Traylor; Julie Gastier-Foster; Devon Lamb Thrush; Caroline Astbury; Dennis Bartholomew; Kim L McBride; Robert E Pyatt; Kate Shane; Wendy E Smith; Valerie Banks; William B Gallentine; Pamela Brock; M Katharine Rudd; Margaret P Adam; Julia A Keene; John A Phillips; Jean P Pfotenhauer; Gordon C Gowans; Pawel Stankiewicz; Bassem A Bejjani; Lisa G Shaffer
Journal:  Am J Hum Genet       Date:  2010-03-04       Impact factor: 11.025

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.  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.  Isolated loss of inferior pubic ramus: a case report.

Authors:  Aly Saber
Journal:  J Med Case Rep       Date:  2008-06-12
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