Literature DB >> 8721563

A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.

A Verloes1, P Jamblin, L Koulischer, J P Bourguignon.   

Abstract

We report two patients, born of consanguineous parents, affected by a disorder resulting in mild growth retardation. Hallmarks are amelogenesis imperfecta (absence of the enamel cap) associated with brachyolmia-like anomalies: platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Inheritance appears to be autosomal recessive.

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Year:  1996        PMID： 8721563     DOI： 10.1111/j.1399-0004.1996.tb04315.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  7 in total

1.  A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.

Authors:  A Kuechler; J Hentschel; I Kurth; B Stephan; E-C Prott; B Schweiger; A Schuster; D Wieczorek; H-J Lüdecke
Journal:  Mol Syndromol       Date:  2012-10-19

2.  A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

Authors:  Amina Al-Yassin; Alistair D Calder; Mike Harrison; Tracy Lester; Helen Lord; Michael Oldridge; Sophie Watkins; Richard Keen; Emma L Wakeling
Journal:  Eur J Hum Genet       Date:  2018-06-11       Impact factor: 4.246

3.  Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Authors:  Mathilde Huckert; Corinne Stoetzel; Supawich Morkmued; Virginie Laugel-Haushalter; Véronique Geoffroy; Jean Muller; François Clauss; Megana K Prasad; Frédéric Obry; Jean Louis Raymond; Marzena Switala; Yves Alembik; Sylvie Soskin; Eric Mathieu; Joseph Hemmerlé; Jean-Luc Weickert; Branka Brukner Dabovic; Daniel B Rifkin; Annelies Dheedene; Eveline Boudin; Oana Caluseriu; Marie-Claude Cholette; Ross Mcleod; Reynaldo Antequera; Marie-Paule Gellé; Jean-Louis Coeuriot; Louis-Frédéric Jacquelin; Isabelle Bailleul-Forestier; Marie-Cécile Manière; Wim Van Hul; Debora Bertola; Pascal Dollé; Alain Verloes; Geert Mortier; Hélène Dollfus; Agnès Bloch-Zupan
Journal:  Hum Mol Genet       Date:  2015-02-10       Impact factor: 6.150

4.  A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report.

Authors:  Samir Laouina; Siham Chafai El Alaoui; Rachida Amezian; Abderrahmane Al Bouzidi; Abdelaziz Sefiani; Mustapha El Alloussi
Journal:  J Med Case Rep       Date:  2015-10-28

5.  Enamel and dental anomalies in latent-transforming growth factor beta-binding protein 3 mutant mice.

Authors:  Supawich Morkmued; Joseph Hemmerle; Eric Mathieu; Virginie Laugel-Haushalter; Branka Dabovic; Daniel B Rifkin; Pascal Dollé; Karen Niederreither; Agnès Bloch-Zupan
Journal:  Eur J Oral Sci       Date:  2017-02       Impact factor: 2.612

Review 6.  The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.

Authors:  Silke Peeters; Pauline De Kinderen; Josephina A N Meester; Aline Verstraeten; Bart L Loeys
Journal:  Hum Mutat       Date:  2022-04-28       Impact factor: 4.700

7.  A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Authors:  Elisabetta Flex; Valentina Imperatore; Giovanna Carpentieri; Alessandro Bruselles; Andrea Ciolfi; Simone Pizzi; Maria Giovanna Tedesco; Daniela Rogaia; Amedea Mencarelli; Giuseppe Di Cara; Alberto Verrotti; Stefania Troiani; Giuseppe Merla; Marco Tartaglia; Paolo Prontera
Journal:  Genes (Basel)       Date:  2021-09-12       Impact factor: 4.096
  7 in total

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