Subject Index. AXIN2, cleft defects 24, 26

Transcription

1 Subject Index ADAMTS, mouse mutants and palate development 37, 38 Africa, cleft lip and palate prevalence 6, 7 Alcohol dependence, pregnancy risks for cleft 25, 61 Altitude, pregnancy risks for cleft 25, 27, 61 Alveolar bone grafting bone morphogenetic protein utilization 129 boneless-bone grafting 129 canine impaction frequency 130 dental arch space management orthodontic space closure 130, 131 tooth implants 131, 132 tooth transplantation 131 donor bone autogeneous bony substitutes 129 site morbidity cranium 128 iliac crest 128 mandibular symphysis 128 rib 128 tibia 128 types 127, 128 goals 126 historical perspective 124, 125 mixed dentition 125, 126 orthodontics , 126, 127, 130, 131 outcomes evaluation 129, 130 factors affecting 130 prospects 132, 133 surgical technique 127 terminology 126 timing 126 Americleft Study 97, 98 γ-aminobutyric acid (GABA), signaling defects in cleft palate 149 AXIN2, cleft defects 24, 26 BMPs, see Bone morphogenetic proteins Bone graft, see Alveolar bone grafting Bone morphogenetic proteins (BMPs) alveolar bone grafting utilization 129 gene mutations in syndromic clefting 42, 44, 66, 67 palate development role animal models expression patterns 63, 64 rescue studies 148, 149 signaling overview 62, 63 Canine impaction, frequency in alveolar bone grafting 130 Catnb, mutant mice CDH1, cleft defects 24, 26 Chromosome 1, cleft lip and palate locus 21 Chromosome 8, cleft lip and palate locus 23 Clinical nurse specialist, speech therapist interactions 144 Cranium, alveolar bone grafting 128 Dlx5 mouse mutants 149 oro-nasal axis patterning 56, 57 Ephrins knockout mice 35, 36 palatal fusion role 151 Epidemiology, cleft lip and palate associated malformations 5 classification microforms 9 sub-phenotypes 8, 9,

2 cleft types 3, 10, 11 data deficiencies 5 environmental factors 24 26, 61 ethnic origin and migration studies 2 EUROCAT study 5, 9 folic acid food fortification impact 12 geographic variation in prevalence incomplete ascertainment 8 India 6 8 latitude and longitude 11, 12 overview 1, 2 Saudi Arabia 8, 10 Sub-Saharan Africa 6, 7 morbidity quantification 14 mortality severity of cleft and additional malformations 3, 4, 10, 11 sex distribution 4, 60 stillbirths and abortions 4, 9 unilateral cleft 4 EUROCAT study 5, 9 Eurocleft study Fbxo11, mouse mutants 40 Fbxw7, mouse mutants 40 FGFs, see Fibroblast growth factors Fibroblast growth factors (FGFs) Fgf7 in oro-nasal axis patterning 56, 57 Fgfr2 activating mutation in mice 45 lip and palate development role expression distribution 73, 74 knockout mouse studies 75, 76 receptors 74, 75 pathway mutations in cleft lip and palate pathogenesis 76, 77 prospects for study 77, 78 signaling overview Folic acid, epidemiological studies of food fortification impact 12 Fzd2, knockout mouse 87 GABA, see γ-aminobutyric acid Genome-wide association studies, cleft lip and palate 20, 22 Gingivo-periosteoplasty, adjunct to surgery 105, 106 Gsk3b, knockout mouse 85, 86, 152 Hypoxia, pregnancy risks for cleft 25 Iliac crest, alveolar bone grafting 128 India, cleft lip and palate prevalence 6 8 Integrins, knockout mice 39 Interferon regulatory factor 6 (IRF6) cleft association studies 20, 21 mouse models knock-in mouse 39 mutagenesis 45 IRF6, see Interferon regulatory factor 6 Jeff, mouse mutants 40 Language, see Speech LEF1, knockout mouse 84 Linkage studies, cleft lip and palate 20, 22 Lip adhesion, adjunct to surgery 105 Lip repair, see Surgical correction LRP6, mouse mutants Mandibular symphysis, alveolar bone grafting 128 MAPK, see Mitogen-activated protein kinase Meningioma1, knockout mouse 35 Mitogen-activated protein kinase (MAPK), palate development role 36 Mortality, cleft lip and palate Mouse models, cleft lip and palate advantages 32, 33 candidate gene identification 34 caveats 46, 47 drug-dependent mutant engineering 151, 152 gene targeting 34, 35 mutagenesis palate development 62, 148 prospects fort study 47 tissue-specific gene targeting 41, 42 transgenic mice 42, 43 ubiquitous gene alterations clefting caused by altered growth of lip and palate primordia clefting caused by altered palatal shelf elevation 37, 38 clefting caused by failure of fusion of lip and palate primordia 38, 39 overview 35 MSX1 clefting mutations 66 knockout mouse 37, 149 NAR, see Naso-alveolar molding Subject Index 157

3 Naso-alveolar molding (NAR), adjunct to surgery 105 Nose cleft lip nose surgical management 108, 109 speech characteristics with cleft palate nasal airflow abnormalities 141 nasal resonance abnormalities 141 Odd-skipped related (osr), knockout mouse 37 Orthodontics adjunct to surgery 104, 105 alveolar bone grafting , 126, 127, 130, 131 orthognathic and osteogenic distraction surgical orthodontics overview 111, 112 presurgical maxillary orthopaedics speech bulb 145 speech therapist interactions 144, 145 treatment by age 5 8 years years years 119, 120 adults 122 osr, see Odd-skipped related Palatal lift, orthodontics 145 Palate repair, see Surgical correction Pax9, knockout mouse 37 Prdm 16, mouse mutants 45 Prenatal detection, cleft palate 152, 153 Presurgical maxillary orthopaedics (PSO) Prevalence, see Epidemiology PSO, see Presurgical maxillary orthopaedics Ptprf, mouse mutants 40 Ptprs, knockout mouse 40 Rib, alveolar bone grafting 128 RNA interference, mouse studies of clefting 44, 45 Rspo2, knockout mouse 84, 85 Runx1, mutant mice 43 Ryk, knockout mouse 87 Saudi Arabia, cleft lip and palate prevalence 8, 10 Shh, see Sonic Hedgehog Smad2, mouse mutants 40 SMOC1, Waardenburg anophthalmia syndrome mutations 44 Smoking, pregnancy risks for cleft 24, 25, 61 Snai, knockout mouse 39 Sonic Hedgehog (Shh) anteroposterior axis patterning 57 expression in developing palate 53, 54 mouse mutants 43, 54 oro-nasal axis patterning 56, 57 rescue studies 148, 149 secondary palate development role 54 56, 149 signaling overview 52, 53 Speech assessment with cleft palate 140, 141, 143 barriers with cleft palate anatomy 138 hearing loss 139 incidence of speech problems 140 overview 139 syndromic impairments 139, 140 characteristics with cleft palate anterior cleft effects 141, 142 nasal airflow abnormalities 141 nasal resonance abnormalities 141 non-oral cleft effects 142 passive cleft effects 142 posterior cleft effects 142 development of speech and language 137, 138 orthodontics 145 palatal function 138 speech therapist indications for therapy 143, 144 multidisciplinary team interactions 144 velopharyngeal dysfunction 142, 143 Speech bulb, orthodontics 145 Spry2, mutant mice 43 SUMO1, mutant mice 43 Surgical correction, cleft lip and palate adjunctive therapy gingivo-periosteoplasty 105, 106 lip adhesion 105 naso-alveolar molding 105 orthodontics 104, 105 alveolar bone grafting, see Alveolar bone grafting anatomy facial skeleton deformity correction 109 goals 101 lip repair 106, 107 nose management 108, 109 outcomes studies, see Surgical outcomes palate repair 107, 108 prospects 109 timing 103, Subject Index

4 velopharyngeal incompetence correction 108 Surgical outcomes, cleft lip and palate alveolar bone grafting evaluation 129, 130 factors affecting 130 Americleft Study 97, 98 Eurocleft study lateral cephalograms 94 limitations of studies 91, 92 measurement mortality impact prospects for study 98, 99 study models 93, 94 United Kingdom Standards Advisory Group 96, 97 Tbx22, knockout mouse 35 TCF4, knockout mouse 84 TGF-α, see Transforming growth factor-α TGF-β, see Transforming growth factor-β Tibia, alveolar bone grafting 128 Tooth implant 131, 132 Tp63, knockout mouse 37, 39 Transforming growth factor-α (TGF-α), cleft lip and palate mutation 61 Transforming growth factor-β (TGF-β) fusion of lip and palate primordia 39, 31, 150, 151 palate development role 62, 148 Twin studies, cleft lip and palate 61 United Kingdom Standards Advisory Group 96, 97 Velopharyngeal incompetence (VPI) correction 108, 143 epidemiology 142 Vlk, knockout mouse 37, 38 VPI, see Velopharyngeal incompetence Waardenburg anophthalmia syndrome (WAS), gene mutations 44 WAS, see Waardenburg anophthalmia syndrome Wnt canonical versus non-canonical signaling lip development canonical signaling 83, 84 non-canonical signaling 84 mutations in clefting 83 palate development canonical signaling non-canonical signaling 86, 87 Wnt5a mouse mutants 37, 86, 87 Subject Index 159

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