Dento/Oro/Craniofacial anomalies and genetics / Agnes Bloch-Zupan, Heddie Sedano, Crispian Scully.

Format:

Book

Author/Creator:

Bloch-Zupan, Agnès.

Contributor:

Sedano, Heddie.

Scully, Crispian.

Language:

English

Subjects (All):

Mouth--Abnormalities.

Mouth.

Mouth--Abnormalities--Genetic aspects.

Genre:

Biographies.

Physical Description:

xiii, 250 pages : illustrations ; 24 cm

Place of Publication:

London ; Waltham : Elsevier, 2012.

Summary:

Elsevier Insights provides high quality specialized content across a range of disciplines including life sciences, physical sciences, social sciences, engineering, computing, and finance. Through fast-track publication, Elsevier Insights offers the reader cutting-edge information, available in eBook or print format. Book jacket.

Contents:

1 Odontogenesis, Anomalies and Genetics 1

1.1 Odontogenesis 1

1.1.1 Tooth Development 1

1.1.2 Developing Through Epithelio-mesenchymal Interactions with Signalling Molecules and Transcription Factors 1

1.1.3 Signalling Pathways 2

1.2 Dental Anomalies 6

1.3 Syndromes and Dental Anomalies 7

2 Missing Teeth (Hypodontia and Oligodontia) 9

2.1 Transcription Factors 9

2.1.1 MSX1 Hypodontia and Oligodontia 10

2.1.2 Witkop Syndrome 11

2.1.3 Wolf-Hirschhorn Syndrome 13

2.1.4 PAX9 Hypodontia and Oligodontia 15

2.1.5 Axenfeld-Rieger Syndrome (Rieger Syndrome) 17

2.2 WNT Signalling Pathway 19

2.2.1 Oligodontia and Colorectal Cancer Syndrome 21

2.2.2 Odonto-Onycho-Dermal Dysplasia (OODD) 23

2.3 TNF/NF-Kappa B Signalling Pathway 26

2.3.1 Hypohidrotic Ectodermal Dysplasia (HED) 29

2.3.2 Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID) 31

2.3.3 Incontinentia Pigmenti 33

2.3.4 Ectrodactyly, Ectodermal Dysplasia and Clefting (EEC) 35

2.3.5 CLPED1 Syndrome (Recessive Cleft Lip/Palate - Ectodermal Dysplasia; Zlotogora-Ogur Syndrome; Ectodermal Dysplasia, Cleft Lip and Palate, Learning Disability, and Syndactyly; Rosselli-Gulienetti Syndrome) 37

2.3.6 Ellis-van Creveld Syndrome (EVC) 39

2.3.7 Weyers Acrofacial Dysostosis Syndrome (Curry-Hall Syndrome) 41

2.3.8 Van der Woude Syndrome (VWS) 42

2.3.9 Oral-Facial-Digital Syndrome Type I (OFDI) 44

2.3.10 Williams (Beuren) Syndrome (WBS) 46

2.4 TGFbeta Superfamily 49

2.4.1 Angel-Shaped Phalango Epiphyseal Dysplasia (ASPED) 50

2.5 SHH Signalling Pathway 52

2.5.1 Solitary Median Maxillary Central Incisor (SMMCI) 53

2.6 Fibroblast Growth Factors (FGF) Pathway 55

2.6.1 Lacrimoauriculodentodigital Syndrome (LADD) 57

2.6.2 Kallmann Syndrome (KS; KAL2) 59

2.7 Other Pathways 62

2.7.1 Bloom Syndrome (BS, BLS) 63

2.7.2 Rothmund-Thomson Syndrome 65

2.7.3 Diastrophic Dysplasia Syndrome 67

2.7.4 Johanson-Blizzard Syndrome 69

2.7.5 Kabuki Syndrome 71

3 Supernumerary Teeth 75

3.1 Cleidocranial Dysplasia (CCD) 76

3.2 Familial Adenomatous Polyposis (FAP) 79

3.3 Nance-Horan Syndrome (NHS) 81

3.4 Tricho-Rhino-Phalangeal Syndromes 83

4 Abnormalities of Tooth Shape and Size 87

4.1 Rubinstein-Taybi Syndrome (RTS) 89

4.2 Otodental Syndrome 94

4.3 Oculo-Facio-Cardio-Dental Syndrome (OFCD) 95

4.4 KBG Syndrome (Herrmann-Pallister-Opitz Syndrome) 98

5 Anomalies in Structure of Teeth - Dentine 101

5.1 Dentinogenesis Imperfecta Type II and DGI-II or Hereditary Opalescent Dentine 103

5.2 Dentinogenesis Imperfecta Type HI (DGI-IH) 105

5.3 Dentine Dysplasia 107

5.4 Osteogenesis Imperfecta (OI) 109

6 Anomalies Structure of Teeth - Enamel 115

6.1 Amelogenesis Imperfecta 120

6.1.1 Amelogenesis Imperfecta 1, Hypoplastic/ Hypomaturation Type AIH1 120

6.1.2 Amelogenesis Imperfecta (AT) Hypoplastic Type IB, IC 122

6.1.3 Amelogenesis Imperfecta, Type III (AI3) 124

6.1.4 AI Pigmented Hypomaturation Type IIA1,AI2A1; IIA2, AI2A2; ILA3, AI2A3 125

6.1.5 Amelogenesis Imperfecta ATH3 127

6.1.6 Amelogenesis Imperfecta Type IV, AI4 127

6.1.7 Tricho-Dento-Osseous Syndrome (TDO) 128

6.1.8 Tricho-Onycho-Dental (TOD) Syndrome 130

6.1.9 Amelogenesis Imperfecta and Nephrocalcinosis Type IG; AI1G 132

6.1.10 Amelogenesis Imperfecta and Cone-Rod Dystrophy 133

6.1.11 Amelogenesis Imperfecta and Platyspondyly 135

6.1.12 Kohlschütter(-Tönz) Syndrome 136

6.1.13 Amelo-Onycho-Hypohidrotic Syndrome 138

6.1.14 Heimler Syndrome 139

6.2 Syndrome with Enamel Defects 140

6.2.1 Epidermolysis Bullosa Syndromes (EB) 140

6.2.2 Tuberous Sclerosis Syndrome (Epiloia; Bourneville-Pringle Syndrome) 145

6.2.3 APECED Syndrome (Autoimmune-Polyendocrinopathy- Candidiasis; Autoimmune Polyglandular Disease Type I) 146

6.2.4 Albright Syndrome (Pseudohypoparathyroidism Type IA, PHP1A) 148

6.2.5 Oculodentodigital Dysplasia (ODDD) 150

6.2.6 Pycnodysostosis (PKND; PYCD; Stanesco's Dysostosis Syndrome) 152

6.2.7 Vitamin D-Dependent Rickets or Pseudo-Deficiency Rickets 154

7 Anomalies of Teeth Eruption and/or Resorption 157

7.1 Sotos Syndrome (Cerebral Gigantism) 160

7.2 Hypophosphataemia Vitamin D-Resistant Rickets, Hypophosphataemia X-Linked 162

7.3 Osteopetrosis 164

7.4 Hypophosphatasia 167

7.5 Papillon-Lefevre Syndrome (PLS) 170

7.6 Haim-Munk Syndrome (Cochin Jewish Disorder, Congenital Keratosis Palmoplantaris) 172

7.7 Familial Expansile Osteolysis Syndrome 174

8 Pathology and Dental Anomalies 177

8.1 Naevoid Basal Cell Carcinoma Syndrome (NBCCS; Gorlin Syndrome) 177

8.2 Cherubism 180.

Notes:

Includes bibliographical references.

ISBN:

9780124160385

0124160387

OCLC:

757491313