Literature DB >> 9133357

Ischio-pubic-patellar hypoplasia: is it a new syndrome?

H K Habboub1, W A Thneibat.   

Abstract

Aplasia/hypoplasia of the patella has been described as an isolated finding or, more commonly, as a part of congenital syndromes. We describe here bilateral absence of the patella in an 11-year-old girl with absence of the ischial and inferior pubic rami bilaterally. Other associated skeletal and soft-tissue deformities are also reported. To our knowledge, the constellation of these findings has not been described previously and represents a unique syndrome.

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Year:  1997        PMID: 9133357     DOI: 10.1007/s002470050162

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


  8 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.  Successful management of unilateral congenital patellar tendon aplasia: case report.

Authors:  Hüseyin Bilgehan Çevik; Güven Bulut
Journal:  Surg Radiol Anat       Date:  2019-11-06       Impact factor: 1.246

3.  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

4.  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

5.  Quantitative anatomy of the primary ossification center in the fetal pubis bone.

Authors:  Mariusz Baumgart; Marcin Wiśniewski; Magdalena Grzonkowska; Mateusz Badura; Michał Szpinda; Katarzyna Pawlak-Osińska
Journal:  Surg Radiol Anat       Date:  2019-03-29       Impact factor: 1.246

6.  A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn.

Authors:  Sindhu Barola; Allison M Parrill; Samaan Mahmoudzadeh; Peyman Bizargity; Rita Verma
Journal:  Cureus       Date:  2022-03-18

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

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

8.  Total hip arthroplasty in an adult patient with pelvic dysmorphism, unilateral sacroiliac joint autofusion, and developmental hip dysplasia.

Authors:  Safa C Fassihi; Danny Lee; Andrew A Tran; Ryan Lee; Tom Pollard; Monica Stadecker; Seth Stake; Alice J Hughes; Savyasachi Thakkar
Journal:  Arthroplast Today       Date:  2019-11-30
  8 in total

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