• Συντομογραφίες...................................................................... xiii
• Ακρωνύμια................................................................................xv
- Πρόλογος................................................................................ xvii
- Εισαγωγή..................................................................................xix
Ενότητα Α’: Συγγενή Σύνδρομα από το Α έως το Ζ
1. Aarskog syndrome...............................................................2
2. Ablepharon - Macrostomia syndrome.................................4
3. Agnathia - Holoprosencephaly ...........................................6
4. Alagille syndrome...............................................................8
5. Albers - Schonberg disease...............................................10
6. Albright - McCune syndrome...........................................12
7. Alport syndrome................................................................14
8. Amalric - Diallinas syndrome...........................................16
9. Ανεγκεφαλία......................................................................18
10. Angelman syndrome.........................................................20
11. Apert syndrome.................................................................22
12. Ατρησία του ΕΑΠ.............................................................24
13. Αχονδροπλασία.................................................................26
14. Avellis syndrome...............................................................28
15. Babinski - Nageotte syndrome..........................................30
16. Barber - Say syndrome......................................................32
17. Bart - Pumphrey syndrome...............................................34
18. Basal cell nevoid syndrome...............................................36
19. Beals - Hecht syndrome....................................................38
20. Beckwith - Wiedemann syndrome....................................40
21. Beemer syndrome..............................................................42
22. Biotinidase deficiency.......................................................44
23. Bloom syndrome...............................................................46
24. Bourneville syndrome.......................................................48
25. Brachmann - Cornelia De Lange syndrome......................50
26. Branchio - Oculo - Facial syndrome.................................52
27. Branchio - Oto - Renal syndrome.....................................54
28. Camptomelic syndrome.....................................................56
29. Cannon Nevus...................................................................58
30. Cardio Facial Cutaneous syndrome...................................60
31. Cat Eye syndrome.............................................................62
32. Catel - Manzke syndrome.................................................64ΠεριεχόμεναγγενείςΑνωμαλίες &ύνδρομαστηνΩτορινολαρυγγολογία
v33. Champion - Creagah - Klein syndrome.............................66
34. CHARGE association........................................................68
35. Cleido Cranial Dysostosis.................................................70
36. Clover Leaf Skull..............................................................72
37. Cockayne syndrome..........................................................74
38. Coffin - Lowry syndrome..................................................76
39. Congenital Heart disease...................................................78
40. Costello syndrome.............................................................80
41. Cowden syndrome.............................................................82
42. Craniofrontonasal dysplasia..............................................84
43. Craniometaphyseal dysplasia............................................86
44. Cri Du Chat syndrome.......................................................88
45. Crouzon syndrome............................................................90
46. Darier Disease...................................................................92
47. De Grouchy syndrome......................................................94
48. Demarquay - Richter syndrome........................................96
49. DIDMOAD syndrome.......................................................98
50. Di George syndrome.......................................................100
51. Dominant Proximal Symphalangia.................................102
52. Down syndrome..............................................................104
53. Duane syndrome..............................................................106
54. Dubowitz syndrome........................................................108
55. Ectrodactyly, ectodermal dysplasia, cleft palate.............110
56. Ellis - Van Creveld syndrome..........................................112
57. Elschnig - Koerber - Salus syndrome..............................114
58. Endemic Cretinism..........................................................116
59. Enlarge Vestibular Aqueduct syndrome..........................118
60. Fanconi Anemia syndrome..............................................120
61. Fetal Alcohol syndrome..................................................122
62. Fetal Hydantoin syndrome..............................................124
63. First and Second Branchial Arch syndrome....................126
64. Floating Harbor syndrome..............................................128
65. Fragile X syndrome.........................................................130
66. Fraser syndrome..............................................................132
67. Frontonasal Dysplasia sequence......................................134
68. Gardner syndrome...........................................................136
69. Gaucher disease...............................................................138
70. Goldenhar syndrome.......................................................140ΠεριεχόμεναΕιρήνηΒαζαΙουvεριεχόμενα
71. Hallermann - Streiff syndrome........................................142
72. Hallux Syndactyly - Ulnar Polydactyly - Abnormal
Earlobe Syndrome...........................................................144
73. Hanhart syndrome...........................................................146
74. Hemifacial Microsomia...................................................148
75. Homocystinuria...............................................................150
76. Hunter syndrome.............................................................152
77. Hurler syndrome..............................................................154
78. Immotile Cilia syndrome.................................................156
79. Infantile Refsum disease.................................................158
80. Isotretinoin (teratogen) syndrome...................................160
81. Jervell and Lange - Nielsen syndrome............................162
82. Kabuki syndrome............................................................164
83. Kallmann syndrome........................................................166
84. Kearns - Sayre syndrome................................................168
85. Kimura disease................................................................170
86. Klippel - Feil syndrome...................................................172
87. Lacrimo Auriculo Dento Digital syndrome.....................174
88. Langer - Giedion syndrome.............................................176
89. Larsen syndrome.............................................................178
90. Lenz Microphthalmia syndrome.....................................180
91. Léri - Weil syndrome.......................................................182
92. Maffucci syndrome.........................................................184
93. Marsall syndrome............................................................186
94. Maternal Inherited Diabetes and HL syndrome..............188
95. Meckel - Gruber syndrome.............................................190
96. MELAS syndrome...........................................................192
97. Melkersson Rosenthal syndrome....................................194
98. Melnick - Needles syndrome...........................................196
99. MEN................................................................................198
100. MERRF syndrome...........................................................200
101. Miller syndrome..............................................................202
102. Mixed Hearing Loss........................................................204
103. Mixed Deafness with Perilymph Gusher
During Stapes Surgery....................................................206
104. Moebius syndrome..........................................................208
105. Mohr syndrome...............................................................210
106. Mohr - Tranebjaerg sdr Deafness - Dystonia syndrome......212
107. Nager syndrome..............................................................214
108. Νευροινομάτωση τύπου ΙΙ..............................................216
109. Norrie disease..................................................................218
110. Noonan Syndrome...........................................................220
111. Oculodentodigital syndrome...........................................222
112. Oculo pharyngeal muscular dystrophy............................224
113. Odonto trichomelic syndrome.........................................226
114. Opitz G/ BBB syndrome.................................................228
115. Opitz syndrome...............................................................230
116. Oral - facial - digital syndrome.......................................232
117. Ortner syndrome..............................................................234
118. Osteogenesis imperfecta..................................................236
119. Otocephalia......................................................................238
120. Νόσος Osler - Rendu - Weber.........................................240
121. Oto - palatal - digital syndrome type I............................242
122. Oto - palatal - digital syndrome type IΙ...........................244
123. Νόσος Paget....................................................................246
124. Pallister - Hall syndrome.................................................250
125. Pancoast syndrome..........................................................252
126. Pena - Shokeir syndrome τύποςΙΙ..................................254
127. Pendred syndrome...........................................................256
128. Peutz - Jeghers syndrome................................................258
129. Pfeiffer syndrome............................................................260
130. Pierre Robin syndrome....................................................262
131. Poland - Moebius syndrome............................................248
132. Potter syndrome...............................................................264
133. Prader - Willi syndrome..................................................266
134. Progeria...........................................................................268
135. Robinow syndrome.........................................................270
136. Rubinstein - Taybi syndrome..........................................272
137. Rutledge multiple congenital anomaly syndrome...........274
138. SCARF syndrome...........................................................276
139. Saethre - Chotzen syndrome...........................................278
140. Say syndrome..................................................................280
141. Seckel syndrome.............................................................282
142. Sickle cell disease............................................................284
143. Smith - Magenis syndrome.............................................286
144. Stickler syndrome............................................................288
145. Sturge - Weber syndrome................................................290
146. Superior semicircular canal dehiscence syndrome..........292
147. Thickened Ear Lobule and Incudostapedial
malunion..........................................................................294
148. Thalidomide ototoxicity congenital disorder..................296
149. Townes - Brocks syndrome.............................................298
150. Treacher Collins syndrome.............................................300
151. Τρισωμία 8 mosaicism....................................................302
152. Τρισωμία 13-15...............................................................304
153. Τρισωμία 18....................................................................306
154. Τρισωμία 22 mosaic........................................................308
155. Tricho - Rhino - Phalangeal syndrome............................310
156. Turner syndrome.............................................................312
157. Turpin syndrome.............................................................314
158. Usher syndrome...............................................................316
159. Van der Wounde syndrome..............................................318
160. VATER............................................................................320
161. Velo - Cardio - Facial......................................................322
162. Waardenburg syndrome...................................................324
163. Whistling Face syndrome................................................326
164. Wildervanck syndrome....................................................328
165. Williams syndrome..........................................................330
166. Wolf - Hirschhorn syndrome...........................................332
167. Zellweger syndrome........................................................334
Ενότητα Β΄: Συγγενείς Ανωμαλίες Οφειλόμενες σε Λοιμώξεις
1. Συγγενής κυτταρομεγαλοϊός...........................................338
2. Συγγενής ερυθρά.............................................................340
3. Συγγενής σύφιλη.............................................................342
4. Συγγενής τοξοπλάσμωση................................................344
5. Εμβρυοπάθεια από θαλιδομίδη.......................................346
Ενότητα Γ’: Συγγενείς Ανωμαλίες
1. Συγγενείς ανωμαλίες του έξω ωτός.................................350
2. Συγγενείς ανωμαλίες του μέσου ωτός.............................352
3. Συγγενείς ανωμαλίες του έσω ωτός................................355
4. Συγγενείς ανωμαλίες και συγγενής παράλυση
του προσωπικού νεύρου..................................................359
5. Συγγενείς ανωμαλίες του κοχλία.....................................361
6. Συγγενή αίτια νεογνικής ρινικής συμφόρησης................361
7. Συγγενείς ανωμαλίες της ρινός, του ρινοφάρυγγα
και των παραρρινίων κόλπων..........................................362
8. Σχιστία χείλους και υπερώας...........................................363
9. Συγγενείς ανωμαλίες του λάρυγγα, της τραχείας
και των βρόγχων..............................................................363
10. Συγγενής λαρυγγική παράλυση.......................................365
11. Συγγενείς ανωμαλίες των μείζονων σιελογόνων
αδένων.............................................................................366
12. Συγγενείς ανωμαλίες της γλώσσας και της
στοματικής κοιλότητας....................................................366
13. Συγγενείς ανωμαλίες των γνάθων και των ούλων...........367
14. Συγγενείς ανωμαλίες του φάρυγγα..................................367
15. Συγγενείς ανωμαλίες του οισοφάγου..............................367
16. Συγγενή μορφώματα προωτιαίας, οπισθοωτιαίας,
παρωτιδικής, υπογνάθιας, υπογενείδιας χώρας και
του τραχήλου...................................................................368
Ενότητα Δ΄: Επίκτητα Σύνδρομα από το Α έως το Ζ
1. Σύνδρομο Avellis.............................................................371
2. Σύνδρομο Behçet.............................................................371
3. Σύνδρομο Babinski Νageotte .........................................375
4. Σύνδρομο Baelz...............................................................375
5. Σύνδρομο Bannawarth....................................................376
6. Σύνδρομο Barany............................................................376
7. Σύνδρομο Barrett.............................................................377
8. Σύνδρομο Besnier-Boeck-Shaumann..............................378
9. Σύνδρομο Bogorad .........................................................381
10. Σύνδρομο Bonnet............................................................382
11. Σύνδρομο Bonnier...........................................................382
12. Σύνδρομο Brissaud - Marie.............................................383
13. Σύνδρομο Brown.............................................................383
14. Σύνδρομο Brun................................................................383
15. Σύνδρομο Caisson...........................................................384
16. Σύνδρομο Castleman.......................................................385
17. Σύνδρομο Σηραγγώδους Κόλπου....................................387
18. Σύνδρομο Cestan Chenais...............................................388
19. Σύνδρομο Collet-Sicard..................................................388
20. Σύνδρομο Cogan.............................................................389
21. Σύνδρομο Costen.............................................................390
22. Σύνδρομο Dandy.............................................................391
23. Σύνδρομο Dejean............................................................391
24. Σύνδρομο Dejerine anterior Bulbar.................................392
25. Σύνδρομο Eisenlohr........................................................392
26. Σύνδρομο Empty Sella....................................................393
27. Σύνδρομο Felty...............................................................394
28. Σύνδρομο First Bite.........................................................395
29. Σύνδρομο Fordyce...........................................................395
30. Σύνδρομο Foster Kennedy..............................................396
31. Σύνδρομο Fothergill........................................................396
32. Σύνδρομο Foville............................................................397
33. Σύνδρομο Frey................................................................398
34. Σύνδρομο Garcin.............................................................399
35. Σύνδρομο Gradenigo ......................................................399
36. Σύνδρομο Grisel..............................................................400
37. Σύνδρομο Guillain Barre.................................................401
38. Σύνδρομο Heerfordt........................................................402
39. Σύνδρομο Hick................................................................402
40. Σύνδρομο Horner............................................................402
41. Νευραλγία Horton...........................................................402
42. Σύνδρομο Jackson...........................................................403
43. Σύνδρομο Jacod...............................................................403
44. Σύνδρομο Kleinschmidt..................................................403
45. Σύνδρομο Klinkert..........................................................403
46. Σύνδρομο Lemierre.........................................................404
47. Σύνδρομο Lermoyez.......................................................404
48. Σύνδρομο Loose Wire.....................................................405
49. Σύνδρομο Mal de Debarquement ...................................405
50. Σύνδρομο Mikulicz.........................................................406
51. Σύνδρομο Millard-Gubler ..............................................407
52. Σύνδρομο Nothnagel.......................................................407
53. Σύνδρομο Obstructive Sleep Apnea................................408
54. Σύνδρομο Ortner.............................................................409
55. Σύνδρομο Ψευδοόγκου Εγκεφάλου................................409
56. Σύνδρομο Raeder............................................................409
57. Σύνδρομο Reichert..........................................................409
58. Σύνδρομο Reye...............................................................409
59. Σύνδρομο Riedel.............................................................410
60. Σύνδρομο Rivalta............................................................410
61. Σύνδρομο Rosai-Dorfman...............................................410
62. Σύνδρομο Samter............................................................411
63. Σύνδρομο Schmidt..........................................................411
64. Σύνδρομο Sheehan..........................................................412
65. Σύνδρομο Shy-Drager.....................................................413
66. Σύνδρομο Sjögren...........................................................414
67. Νευραλγία Sluder............................................................415
68. Σύνδρομο Steven-Johnson..............................................415
69. Σύνδρομο Supraorbital Fissure.......................................416
70. Σύνδρομο Superior Vena Cava........................................417
71. Σύνδρομο Tapia...............................................................418
72. Σύνδρομο Trotter.............................................................418
73. Σύνδρομο Vail.................................................................418
74. Σύνδρομο Vernet.............................................................418
75. Σύνδρομο Vogt-Koyanagi-Harada...................................419
76. Σύνδρομο Wallenberg......................................................419
Ενότητα Ε΄: Παράρτημα
1. Προγεννητικός έλεγχος................................................... 423
1.1 Εισαγωγή................................................................. 423
1.2 Υποπλασία του ρινικού οστού και επόμενος
έλεγχος.....................................................................424
2. Ορισμοί ........................................................................... 427
2.1 Ανώμαλη μορφογένεση........................................... 427
2.2 Βραγχιακές ανωμαλίες............................................ 427
2.3 Χρόνος εμφάνισης κρανιο-προσωπικών
δυσμορφιών............................................................. 428
2.4. Σύνδρομα Μεταβολικής Δυσπλασίας...................... 428
2.5 Αίτια τερατογένεσης............................................... 429
2.6. Αίτια ευβρυικού θανάτου........................................ 431
2.7 Αίτια νεογνικού θανάτου......................................... 431
2.8 Αίτια που προκαλούν το θάνατο στα παιδιά........... 431
2.9 Κλινικά σύνδρομα που προκαλούν καταπληξία..... 431
3. Ελληνο-Αγγλικό Λεξικό Ιατρικών Όρων........................ 432
4. Επιφανείς Ιατροί.............................................................. 440
5. Εικόνες Δυσμορφιών....................................................... 453
- Προτεινόμενη Βιβλιογραφία................................................ 489
