Dento/Oro/Craniofacial Anomalies and Genetics - 1st Edition - ISBN: 9780124160385, 9780123914736

Dento/Oro/Craniofacial Anomalies and Genetics

1st Edition

Authors: Agnes Bloch-Zupan Heddie Sedano Crispian Scully
eBook ISBN: 9780123914736
Hardcover ISBN: 9780124160385
Paperback ISBN: 9780323282239
Imprint: Elsevier
Published Date: 21st March 2012
Page Count: 264
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Dental defects may be the physical expression of genetic defects, and so they can often be seen in a variety of syndromes associated with malformations of organs. However, dental defects are often not recognized, identified, nor characterised despite representing a possible diagnostic sign for an undiagnosed condition. This book addresses this gap by providing an understanding of dental genetics and its developmental biology counterpart. With approximately seventy well-illustrated examples, the authors present the clinical oro-facial manifestations accompanying various syndromes, providing the necessary knowledge for diagnostic purposes, as well as giving insight into recent development for each specific condition. The clarity and format of this book make it an ideal support guide both in the clinic and while conducting research.

Key Features

  • Comprehensive examination of dento/oro/craniofacial anomalies
  • Well-illustrated examples
  • Presented in a compact, easy to use format


Dentists, Craniofacial surgeons, Dermatologists, Geneticists

Table of Contents




1. Odontogenesis, Anomalies and Genetics

1.1 Odontogenesis

1.2 Dental Anomalies

1.3 Syndromes and Dental Anomalies

2. Missing Teeth (Hypodontia and Oligodontia)

2.1 Transcription Factors

2.2 WNT Signalling Pathway

2.3 TNF/NF-Kappa B Signalling Pathway

2.4 TGFbeta Superfamily

2.5 SHH Signalling Pathway

2.6 Fibroblast Growth Factors (FGF) Pathway

2.7 Other Pathways

3. Supernumerary Teeth

3.1 Cleidocranial Dysplasia (CCD)

3.2 Familial Adenomatous Polyposis (FAP)

3.3 Nance-Horan Syndrome (NHS)

3.4 Tricho-Rhino-Phalangeal Syndromes

4. Abnormalities of Tooth Shape and Size

4.1 Rubinstein-Taybi Syndrome (RTS)

4.2 Otodental Syndrome

4.3 Oculo-Facio-Cardio-Dental Syndrome (OFCD)

4.4 KBG Syndrome (Herrmann-Pallister-Opitz Syndrome)

5. Anomalies in Structure of Teeth – Dentine

5.1 Dentinogenesis Imperfecta Type II and DGI-II or Hereditary Opalescent Dentine

5.2 Dentinogenesis Imperfecta Type III (DGI-III)

5.3 Dentine Dysplasia

5.4 Osteogenesis Imperfecta (OI)

6. Anomalies Structure of Teeth – Enamel

6.1 Amelogenesis Imperfecta

6.2 Syndrome with Enamel Defects

7. Anomalies of Teeth Eruption and/or Resorption

7.1 Sotos Syndrome (Cerebral Gigantism)

7.2 Hypophosphataemic Vitamin D-Resistant Rickets, Hypophosphataemia X-Linked

7.3 Osteopetrosis

7.4 Hypophosphatasia

7.5 Papillon–Lefèvre Syndrome (PLS)

7.6 Haim–Munk Syndrome (Cochin Jewish Disorder, Congenital Keratosis Palmoplantaris)

7.7 Familial Expansile Osteolysis Syndrome

8. Pathology and Dental Anomalies

8.1 Naevoid Basal Cell Carcinoma Syndrome (NBCCS; Gorlin syndrome)

8.2 Cherubism



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About the Author

Agnes Bloch-Zupan

A. BLOCH-ZUPAN is a world wide known expert in odontogenetics. Her research interests are craniofacial and specifically palate and tooth development and their abnormalities. Her originality is to combine approaches both in mice and humans presenting these palate and teeth developmental defects as clinical phenotypical manifestations of rare diseases. She is also leading the D[4]/phenodent (see registry for human dental anomalies and a PHRC on Amelogenesis imperfecta.

1988 Doctor in Dental Sciences; 1994 PhD, Developmental Biology; 2004 Habilitation à Diriger les Recherches, Louis Pasteur University, Strasbourg;

Since 2007 Professor (PU-PH) in Oral Biology, Faculty of Dentistry, University of Strasbourg, France; Reference Centre for Oro-Dental manifestations of rare diseases, Service de Médecine et Soins BuccoDentaires, Hôpitaux Universitaires de Strasbourg; IGBMC Team Leader, Orodental Development and Anomalies llkirch (France). Since 2009 Honorary Professor Eastman Dental Institute, University College London (UCL) and Hospital. Since 2008 Board-Member of the European Society of Human Genetics; Since 2008 President of the scientific committee of the patient support group Hypophosphatasia Europe. 2005-2007 Associate Professor in Oral Biology; 2003-1994 Associate Professor in Paediatric Dentistry; Faculty of Dentistry, University of Strasbourg, France; 2000-2003 Senior Clinical Lecturer in Paediatric Dentistry with Honorary Consultant status, Eastman Dental Institute for Oral Health Care Sciences, University College London (UCL) and Hospital,London, UK; 1998 Institute of Dental Research, Honorary Visiting Dental Officer, Westmead Hospital Dental Clinical School, Australia. 2003-2008 Chairperson and expert of the working group WG3 Genetics/Anomalies of the European COST (European Concerted Research Action B23) “Oral facial development and regeneration”.

Affiliations and Expertise

University of Strasbourg

Heddie Sedano

Affiliations and Expertise

School of Dentistry and CranioFacial Clinic, School of Medicine, University of California, Los Angeles, USA

Crispian Scully

Crispian Scully is a Director of the World Health Organization Collaborating Centre for Oral Health-General Health; and is emeritus Professor at UCL. He is Co-Editor of Oral Diseases, Medicina Oral, and Associate Editor of the Journal of Investigative and Clinical Dentistry.

Crispian Scully is Past-President of the International Academy of Oral Oncology, European Association of Oral Medicine, British Society for Oral Medicine and British Society of Disability and Oral Health, he has served as Dean in Bristol and UCL; on the General Dental Council; on the Councils of the Royals colleges in Glasgow and Edinburgh; and on committees of NICE and CRUK, He has written and edited over 45 books, written over 150 book chapters and has over 1000 papers cited on MEDLINE. He has received the CBE, University of Helsinki Medal of Honour, University of Santiago de Compostela Medal, University of Granada Medal, Fellowship of UCL, and honorary degrees from the Universities of Athens, Granada, Helsinki and Pretoria. He has received the UK Dental Award for the Most Outstanding Achievements in Dentistry, the Awards of the Spanish Society for Oral Medicine and the Hellenic Society for Oral Medicine, and the International Award of the Spanish Society for Oral Surgery.

Affiliations and Expertise

Director: WHO Collaborating Centre for Oral Health-General Health; King James IV Professor Royal College of Surgeons (Edinburgh); Emeritus Professor: UCL (London) and Visiting Professor; Universities of Athens, Edinburgh, Helsinki, Hertfordshire, Middlesex and Plymouth

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