Literature DB >> 2729357

Omodysplasia.

P Maroteaux1, J Sauvegrain, A Chrispin, J P Farriaux.   

Abstract

Three cases of a new congenital bone disorder associating facial anomalies (depressed nasal bridge, broad base of the nose, long philtrum) with short humeri. The complex skeletal abnormalities consist of a defect of growth of the distal end of the humerus, a hypoplastic everted condyle, an upper radioulnar diastasis, and a anterolateral dislocation of the head of the radius. The condition is dominantly inherited. Two other cases with the same facial anomalies and osteoarticular abnormalities of the upper limbs are described. These cases also showed a severe micromelic dwarfism due to shortness of the long bones, particularly the femora. The present authors consider that these represent variable expressivity of the same disorder and propose that this condition be called omodysplasia (from the Greek term for humerus).

Entities:  

Mesh:

Year:  1989        PMID: 2729357     DOI: 10.1002/ajmg.1320320321

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  11 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

Review 2.  Skeletal dysplasias.

Authors:  Deborah Krakow
Journal:  Clin Perinatol       Date:  2015-04-08       Impact factor: 3.430

3.  Radiologic findings of Patterson-Lowry rhizomelic dysplasia in two sisters.

Authors:  Çağrı Damar; Öznur Boyunağa; Betül Emine Derinkuyu; Nergiz Battaloğlu; Fatih Süheyl Ezgü
Journal:  Skeletal Radiol       Date:  2014-07-20       Impact factor: 2.199

4.  A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.

Authors:  Howard M Saal; Cynthia A Prows; Iris Guerreiro; Milene Donlin; Luke Knudson; Kristen L Sund; Ching-Fang Chang; Samantha A Brugmann; Rolf W Stottmann
Journal:  Hum Mol Genet       Date:  2015-03-10       Impact factor: 6.150

5.  A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.

Authors:  Seval Türkmen; Malte Spielmann; Nilay Güneş; Alexej Knaus; Ricarda Flöttmann; Stefan Mundlos; Beyhan Tüysüz
Journal:  Mol Syndromol       Date:  2017-09-08

Review 6.  Recessive omodysplasia: five new cases and review of the literature.

Authors:  Nursel H Elçioglu; Karl H Gustavson; Andrew O M Wilkie; Memune Yüksel-Apak; Jürgen W Spranger
Journal:  Pediatr Radiol       Date:  2003-10-18

7.  Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

Authors:  Ana Belinda Campos-Xavier; Danielle Martinet; John Bateman; Dan Belluoccio; Lynn Rowley; Tiong Yang Tan; Alica Baxová; Karl-Henrik Gustavson; Zvi U Borochowitz; A Micheil Innes; Sheila Unger; Jacques S Beckmann; Lauréane Mittaz; Diana Ballhausen; Andrea Superti-Furga; Ravi Savarirayan; Luisa Bonafé
Journal:  Am J Hum Genet       Date:  2009-05-28       Impact factor: 11.025

8.  Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.

Authors:  Allan Bayat; Morton Dunø; Maria Kirchhoff; Finn S Jørgensen; Gen Nishimura; Hanne B Hove
Journal:  Mol Syndromol       Date:  2020-03-07

9.  Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.

Authors:  Hannah E Warren; Raymond J Louie; Michael J Friez; Jaime L Frías; Jules G Leroy; Jürgen W Spranger; Steven A Skinner; Neena L Champaigne
Journal:  Clin Case Rep       Date:  2018-10-15

10.  Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Authors:  Chaofan Zhang; Angad Jolly; Brian J Shayota; Juliana F Mazzeu; Haowei Du; Moez Dawood; Patricia Celestino Soper; Ariadne Ramalho de Lima; Bárbara Merfort Ferreira; Zeynep Coban-Akdemir; Janson White; Deborah Shears; Fraser Robert Thomson; Sarah Louise Douglas; Andrew Wainwright; Kathryn Bailey; Paul Wordsworth; Mike Oldridge; Tracy Lester; Alistair D Calder; Katja Dumic; Siddharth Banka; Dian Donnai; Shalini N Jhangiani; Lorraine Potocki; Wendy K Chung; Sara Mora; Hope Northrup; Myla Ashfaq; Jill A Rosenfeld; Kati Mason; Lynda C Pollack; Allyn McConkie-Rosell; Wei Kelly; Marie McDonald; Natalie S Hauser; Peter Leahy; Cynthia M Powell; Raquel Boy; Rachel Sayuri Honjo; Fernando Kok; Lucia R Martelli; Vicente Odone Filho; Donna M Muzny; Richard A Gibbs; Jennifer E Posey; Pengfei Liu; James R Lupski; V Reid Sutton; Claudia M B Carvalho
Journal:  HGG Adv       Date:  2021-12-03
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