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M A U R IC E P .R A V A U LT
G IA O S U T H A C S i LY O N

NGL/OI DjCH

GS. BS. HA HUY TIEN

CAC HOI CHUNG

NHAN KHOA
Vtfl BENH LY TOflN THAN

NHA XU AT BAN Y HOC


M A U R IC E P .KAVAULT
Giao stf Thac si - Lyon

C A C HOI CHUNG
N H A N K H O A VCjl BENH LY
TOANTHAN

TAI BAN LAN THU BA

NgU('ii djch : Gs. Bs. Ha Huy Tien

n h A X U A T b A n Y HOC

HA NO i - 2000



CAC HOI C H tfN G NH AN KHOA
v O l BEN H LY TO AN TH AN


M AUR ICE - P.RA VAU LT
Professeur agrege a la Faculte
Ophtalmologiste des Hopitaux
(Lyon)

SYNDROMES
EN

OPHTALMOLOGIE
(Guide - Dictionnaire)


LOI G Itfl THIEU

Quyen “CAC HOI CHUNG TRONG NHAN KHOA” xuat
ban lan thii nhat narn 1983, da dutfc cac ban dong nghiep
trong nganh Y - Khong nhung ve chuyen khoa mat ma ca
cac chuyen khoa khac - nhiet liet hoan nghenh vi thuc su
no da trtf thanh mot quyen Tur dien lam sang ve benh ly co
lien quan den nhieu chuyen khoa (noi, ngoai, nhi, than
kinh, TMH, RHM, mat, da lieu, noi tiet, v.v...)
De dap ung yeu cau cua cac nha lam sang, Nha xuat
ban Y hoc da cho tai ban sach voi ten moi phu hcrp hon
“CAC HOI CHUNG NH AN KHOA VOI BENH LY TOAN
THAN”.
Sau khi da dugc cac ban dong nghiep gan xa gop y,

ban dich da dutfc siia chiia, bo sung hoan chinh. Mong r^ng
no se tra thanh mot quyen cam nang lam sang huu ich cho
tat ca cac ban.
NH A XUAT BAN Y HOC

3


LCfl NOI DAU
Nhd nhtirng thanh tUU mdi cua nhieu nganh khoa hoc ca
ban va noi rieng cua y hoc, cong them nhOrng tien bo cua cac
phifcrng phap chan do&n cung nhu cua cac miy moc, phucfng
ti£n ng&y cang tinh vi, chinh xic, viec phit hien va chan doin
b$nh hpc lam sang trong nhan khoa ng&y ding phong phu. Do
do, ngay nay da co h&ng trim hoi churng, benh tat va cac dau
hi£u, cic hien tugng benh ly ve m it mang ten rieng cua cic
tic gia nude ngoii, nhieu den mufc khong ai c6 the nim chic
v i nh6 het de van dung vio trong cong tic hing ngiy cua mgt
thay thuoc nhan khoa.
Cuon sich n iy do GS. Thac si Maurice P.Ravault bien
soan l i mot t i i li§u tot, tic g ii da c6 cong tip hop hon
763 hm it v i c6 lien quan den m it, vtfi n$i dung xuc tich, phong
phu ; cich viet n gin gon, ro ring. D ie bi$t, tic g ii da sip
xep ten cic hQi chtfng, b$nh, diu hi§u... theo vin chuf cii
nen r it d i tra ctfu. C6 the n6i d iy l i mlim sin g nhan khoa h in g ngiy. D6ng thfri cic thiy thuoc
chuyen khoa k h ic nhtf n§i, thin kinh, nhi khoa, di truyln
hoc... cung c6 the suf dung de tra curu m6i khi c6 vin de
lien quan den m it.

Cuon sich cd sip d it 3 bang tra curu:
-

Bang I: Hi/dng din tra curu tif mpt tri^u churng nhan

khoa di den chin doin b£nh hoic hQi churng.

5


- Bang II: C&c benh, hoi churng va trieu churng thuan
tuy nhan khoa.
- Bang III: Cac benh va hoi churng co trieu churng nhan
khoa.
Dt/a v&o cdc bang tra curu n&y va cac de muc trong s£ch,
ngifcri thay thuoc co the di tif mot tri£u churng hodc mpt
hpi churng di thfi'y d l tim ra ten b§nh hodc hdi chtfng phurc
tap hon; tCf d6 biet di sau ph£t hien them c£c tri^u churng
khdc, hoSc bi£t de ra c£c yeu cfiu ve x6t nghiem cSn 15m
s&ng; hoSc pho'i hop vdri cAc khoa kh6c d£ chan do£n duoc
chinh xdc. Biet c£ch sur dung cdc bdng tra curu, ta c6 th£
nhanh ch6ng n^m di/gc vS'n d£ cln thi^t

khQng ph5i

mat nhigu thi gid di luc tim d cAc s£ch kh5c. De tien dung
cho viec tra ctfu, chung toi da ddnh so tir muc 1 den muc
cuoi cung, ban doc can lifu y: nhufng con so dung trong cac
bang tra curu la so" cua muc cain tra crtu (khong phai so cua
trang sdch).

NGLfCfl DICH

6


BANG 1

H U d N G DAN T R A CUfU
Tl/ MQT TRIEU CHlJNG NHAN KHOA
DI DEN CHAN DOAN BENH
HOAC HQI CHUfNG
I. T R I$U CHUfNG CUA HOC MAT
a) LOI NHAN CAU
- Alberr Schonberg 5

- Gruber 292

- Apert 16

- Hand - Schuller - Chris-

- Bertolotti 61
- Crouzon 158

tian 308
- Pierre Marie v& Sainton

- Devic - Bussy - Gardner 183
- Gansslen 257


554

- Recklinghausen 575
b) THUT NHAN CAU

- Kurz 410

- Steiner 660

- Romberg 592
c) KHOANG CACH HAI MAT XA NHAU
(Hypertelorisme)

7


Apert 16

- Gruber 292

Bartenwerfer 40

- Hurler 346

Bonnevie - Ullrich-

- Lange 417

Turner 91
Crouzon 158


- Lejeune 429

Freeman - Sheldon 244

- Patau 537

Gansslen 257

- Potter 562

Greig 287

- Pyle 567

2. TR IEU CHtfNG CUA Ml MAT
a) NEP QUAT GOC TRONG MI (Epicanthus)
Bartenwerfer 40

- Langdon Down 416

Bonnevie - Ullrich -

- Potter 562

Turner 91
Freeman - Sheldon 244

- Rubinstein - Taybi 601


Klein 389

- Waardenburg - Klein 728
b) SUP MI

- Bonnevie - Ullrich Turner 91

- Nonne - Milroy Meige 509

- Gregg 286

- Recklinghausen 575

- Laffer - Ascher 412

- Romberg 592

- Marcus - Gunn 452

- Waardenburg - Klein 728
c) SAC TO MI

- Fabry 205

8

- Ota 524


- Herrick 326


- Peutz - Touraine 545

- Hippel (Von) - Lindau 331

- Recklinghausen 575

- Klippel - Trenaunay 392
d) U M A CH (Angiomatose)
- Rendu - Osier 583

- Rubinstein - Taybi 601

- Rothmund 599

- Sturge - Weber - Krabble 672
e) X E C H KHE MI

- Apert 16

- Lange 417

- Bartenwerfer 40

- Lejeune 429

- Bonnevie - Ullrich -

- Leri 431


Turner 91
- Elschnig 199

- Pierre Marie va Sainton 554

- Franceschetti - Zwahlen 238 - Rubinstein - Taybi 601
- Langdon Down 416
g) VENH BCf MI - HCJ MI
- Apert 16

- Franceschetti - Zwahlen 238

- Bar 34

- Melkersson - Rosenthal 468

- Elshnig 199

- Moebius 484

h) DINH MI - N H A N CAU, LONG XIEU
- Diihring - Brock 190

- Lyell 446

- Fiessinger - Rendu 221

- Stevens - Johnson 662

- Gougerot - Sjogren 278


9


i)

LECH CHO DIEM LE

(Dystopie des points lacrymaux)
- Franceschetti - Zwahlen 238

- Rocher - Sheldon 588
- Waardenburg - Klein 728

- Klein 389

3. K H 6 NU dC MAT
- Christ - Siemens 135

- Riley - Day 585

- Gougerot - SjOgren 278

- Rocher - Sheldon 588

4. KHONG NHAN CAU VA NHAN CAU B E
Peters 544

- Bonnevie - Ullrich
Turner 91

- B ou m ev ille 96

Reese - Blodi 577

- Francois J: H oi chiing

Robin (Pierre) 586

loan xtfong dau 239
- G regg 286

Sjogren (hpi churng) 644

- Krause 406

Smith - Patau 649

- Leri 431

Terry 684

- Little 439

Ullrich - Feichtiger 704

- Morsier (De) 494

Weyers - Thier 752

5. G IAC MAC

a) VIEM GlAC MAC DO ROI LOAN DINH D U 0N G
- Cogan 143

- Peters 544

- Duhring - Brock 190.

- Riley - Day 585

10


- Fiessinger - Rendu 221

- Rosenthal - Kloepfer 596

- Gougerot - Sjogren 278

- Savin 616

- Hanhart 309

- Smith - Patau 649

- Lyell 446

- Spannlang - Tappeiner 654

- Melkersson - Rosenthal 468 - Still 663
b) CAC BENH TICH (Thesaurismoses)

- Bonnevie - Ullrich Turner 91

- Hand - Schuller Christian 308

- Burger - Grutz 114

- Hurler 346

- Fabry 205

- Leri 431

- Francois J vh Detroit 241

- Lignac - Fanconi 436

- Gaucher 262

- Morquio - Ullrich 493

- Gierke (Von) 268

- Tangier 678

c) BAT BINH THUCJNG VE KICH THUCfC VA B 0 CONG
- Alport 10

- Langdon Down 416

- Apert 16


- Reiger 579

- Bourneville 96

- Sjogren (hQi churng) 644

- Hurler 346
6. MONG MAT
a) VIEM M ONG MAT
- Behcet 51

- Harada 311

- Besnier - Boeck -

- Still 663

Schaumann 62

- Vogt - Koyanaghi 717

11


Vj j K.HY 'i V/Y TAT V.<) > . M.V\
- Biemond 72

- Reiger '> ■''


- B o u r n e v ille 96

- Srrnth - P a t a u 6 4 9

- Gregg 286

- Ullrich - Feichtiger

- H ennebert 323

- Weyers - Thier 752

- Hurler 346
c) DI SAC MONG MAT
- Klein 389

- Passow 536

- Langdon Down 416

- Romberg 592

- Mende 469

- Waardenburg - KJein 728

- Ota 524
di MANG DONG TU
- Bonnevie - Ullrich -


- Peters 544

Turner 91
- G reg g 286

- Reiger 579.

- L o w e 445

- Weill - Marchesani 743

- M arfan 454
7.
' -Apert 16
- Gregg 286
H u r ler

3 4 5

' Krause 406
' Lowe 445

GLOCOM BAM SINH
- Peters 544
- Recklinghausen 575
- Reiger 5 7 9
' £J° bin (Pierre) 5 8 6
R u h ia s t e i n .

12


Taybi 6 0 1


•i'iff;iri 1.> 1

. St urge - Weber - xvrabbe 672

■■- ' >i*■ - Miln.v - M e i g e 5 09

- Toni (D o) -D ebr e - Fanconi
692

1’ atau .r>;;,

_ We i l l - M n r c h e s a n i 713

8. T H E T H U Y TINH
a) D U O THE T H U Y TINH 15AM S IX H
- Albright 6

Gregg 286

- Alport 10

Hallgren 307

- Apert 16

Hirschprung 333


- Blegvad - Haxthausen 78

Hurler 346

- Bonnevie - U llrich -

Langdon Down 416

Turner 91
Little 439

- Christ - Siem ens 135

- Couradi - Hiinerm ann 150 - Lowe 445
- Ellis - Creveld (Van) 198

- Marfan 454

- Fabry 205

Marinesco - S jogren 458

- Francois (J): H oi churng

Peters 544

loan xi/cfng ddu 239
- Goppert 277


Robin (Pierre) 586

- Graefe (Von) - L indenov
282

Rothmund 599

b) BAT BINH THUO’NG VE H iN H D AN G VA VI TRI
- Alport 10

- Marfan 454

- Charcot - Marie - T ooth 130

- Sjogren (hoi chufng) 644

- Gregg 286

- Weill - Marchesani 743

13


9. V O N G MAC
a) T H O A I H O A T A P E T O - V O N G M A C

- Albright 6

- Little 439


- Alstrom 11

- Marfan 454

- Amalric - Diallinas 13

- Pelizaeus - Merzbacher 542

- Bassen va Kornzweig 42

- Pierre Marie 552

- Biemond 72

- Refsum 578

- Cockayne 142

- Rud 602

- Farber 210

- Sanger Brown 613

- Friedreich 246

- Sjogren: Loan dtfdng mo

- Gilford - Hutchinson 271


li/di s^c to 645

- Graefe (Von)-Lindenov 282 - Sjogren - Larsson 646
- Gregg 286

- Sorsby 652

- Hallgren 307

- Steinert 660

- Hirchsprung 333

- Toni (De) - Debre -

- Hurler 346

Fanconi 692

- Kearns 382

- Urbach - Wiethe 709

- Laurence - Moon -

- Usher 711

Bardet - Biedl 420

b) C^


M "D°

anh

DAO"

h o An g

d ie m

- Farber 210
- Gaucher 262

- Jansky - BieJschowsky 367
14

- Landing 414
VT.
- Niemann - Pick 508
. Tay . Sach, 680


c) GIA GLIOM
- Krause 406

- Robin (Pierre) 586

- Norrie 511


- Terry 684

- Reese - Blodi 577

10. TON THUONG THI THAN KINH
- Albers S ch on b erg 5

- Little 439

- Bertolotti 61

- Menkes 471

- Camurati - Engelman 120 - Morgagni - Morel 491
- Charcot - Marie - Tooth 130 - Morsier (De) 494
- Crouzon 158

- Niemann - Pick 508

- Friedreich 246

- Patau 537

- Guillain - Barre 296

- Pelizaeus - Merzbacher 542

- Hirschprung 333

- Pierre Marie 552


- Hodgkin 334

- Pyle 567

- Holtenmuller - Wieder-

- Sanger Brown 613

mann 338

- Schilder - Foix 623
- Tay - Sachs 680

11. BACH

tan g

MAT

Chediak - Higashi 132

- Mende 469

Foiling 231

- Vogt - Koyanaghi 717

Harada 311


- Waardenburg - Klein 728

15


BANG

II

B EN H , HOI CHQN G VA T R IE U
C H tiN G THUAN T U Y NHAN KHOA
I. K E T MAC
a) VIEM KET MAC
- Axenfeld: viem ket mac co hot 24
- Beal: viem ket mac co hot 47
- Dejean -Temple: viem ket mac co hot 175
- Morax - Axenfeld: viem ket mac d goc do song tri/c
khuan 488
- Newcastle: viem ket mac do virus 504
- Parinaud: hoi chiJng ket mac - hach 529
- Pascheff: viem ket mac nhilm khuan cap 535
- Pfeiffer: viem ket mac do trifc khuan Pfeiffer 547
- Sanyal: viem ket mac do nam actynomyces 614
- Widmark: viem ket mac cSp 753
b) LINH TINH
- Arlt (di/dng) 19
- Bitot (cham) 76

16



- Brownlee (dau hieu) 109
- Meyer (dau hieu) 474
- Parinaud (u bieu m o-da) 530
- Pick (dau hieu) 549
- Prowazek (Von) - Halberstaedter (tieu the) 565
- Trantas (hat) 697
- W eeks (true khuan) 740
Ghi chu: Nhufng benh va hoi chufng co trieu chufng ket
mac phoi hop thi tra cufu banj^lV
T*"
- nhan cau; long xieu).

i V m u c g (dinh mi

2. G IA C MAC
a) LOAN DUONG
- Bietti: loan dudng giac mac co not kieu that lung 74
- Bietti: loan dtfong tinh the chu bien gi&c mac 75
- Coats: vong giac mac 141
- Cogan: loan dtfdng vi u nang bieu mo 145
- Fehr: loan dtfdng gidc mac cham nhu mo 215
- Franceschetti: loan dirdng gidc mac cham sau 235
- Franceschetti: xtfdc gi5c mac di truyen tai diin 236
- Francois (J): loan dudng may md trung tam giac mac 240
. - Francois (J) - Detroit: loan dudng bi - xtfcfng sun - giac
mac 241
- Francois (J) - Neetens: loan dirdng giac mac lom dom 243
- Fuchs: loan dirdng giac mac noi bieu mo 248


17


Groenouw: loan dudng gi^c mac not nhu mo 289
Haab - Dimmer: loan dudng gi£c mac mang ludi nhu
mo 304.
Hassal - Henle: tieu the 314
Hudson - Stahli (dudng) 342
Kayser - Fleischer (v6ng) 381
Koby: loan dirdng mo ludi 396
Kraupa: loan dudng bieu mo 405
Krukenberg (thoi) 407
Maeder: loan dudng bieu mo 466
Moncrief (dudng) 485
Orzalesi: loan dudng giac mac md d ngudi ldn 521
Pillat: loan dudng nhu mo 555
Reis - Bucklers: loan dudng gidc mac hinh

vong 581

Schnyder: loan dudng tinh the 627
Stocker (dudng) 666
Terrien: gian phinh vung bd gi^c mac 683
Vogt: cornea farinata 723
Vogt: Thodi hoa ria gi£c mac hinh v&nh dai tr^ng 721
Waardenburg - Jonkers: loan dudng gidc mac 727
b) VIEM GIAC MAC
Dimmer: viem giac mac hinh ddng tien 184
Favaloro: viem noi mo gi^c mac; tho£i h6a noi md 211
Fuchs: viem giac mac cham nong 250



- Herbert: tieu hoa h ong 324
- Herbert: viem gi^c mac cham 325
- Hutchinson: viem giac mac khe giang mai di truyen 347
- Kirk - Patrik: viem giac mac vet cham 387
- Manthner: viem giac mac cham 450
- Mooren: loet nao sau (uleus rodens) 487
- Salzmann: viem giac mac not 611
- Thygeson: viem giac mac cham 689
- Vossius: viem giac mac hinh vong 725
- Westhoff: viem gidc mac chSm 750
c) LINH TINH
- Axenfeld: v&ng due ph6i sau gidc mac 25
- Ehrlich - Turck (dirdng) 197
- Fleischer (dirdng) 223
- Gaule (chfi'm) 263
- Haab (ke vfin) 302
- Munson (dfi’u hieu) 497
- Oppenheim (dfi'u hieu) 520
- Peters (di dang) 544
- Reiger (hoi churng) 579
- Sattler (man che) 615
- Seidel (dau hieu) 633
Ghi chu: Nhufng benh v& hQi chtfng c6 trieu chtfng giac
mac phoi hop, xem bang tra curu I, phin 5 (giac mac).

19



3. MANG BO DAO
a)

TO N TH U O N G VIEM

Busacca: not 116
Doyne: viem mong mStt Guttata 188
Fleischer: viem h^c mac 224
Forster: viem h^c mac tan man 232
Gilbert: viem mong mat tai diln 270
Harada (benh) 311
Hutchinson: viem mong m£t tham lSng 350
Jensen: viem hac - vong mac ngay canh gai 372
Kitahara: viem hac mac thanh dich trung tam 338
Michel (cham) 476
Ridley: viem hac mac do giun onchocerca 584
Vogt - Koyanaghi (benh) 717
b) TON THUONG THOAl H 6 a
Brushfield (cham) 110
Fuchs: bien s£c mong mdt 247
Hutchinson - Tay: viem h ie mac Guttata 355
Siegrist: ke van hinh soi chi don dang 636
c) LINH TINH
Hagen (dau hieu) 305
Villaret (tam chtfng) 714
Wachendorf: m^ng dong tur 730


Ghi chu: NhCrng benh va hoi chUng co trieu chufng mong
mat phoi hap, xem bang tra curu I, phan 6 (M ong mat).

4. GLOCOM
- Graefe (Von): glocom khong t&ng nhan ap 281
- P osner - Schlossmann: can glocom the mi 561
- Vogt: glocom do bao the thuy tinh 719
Ghi chu: Nhufng benh va hoi chufng co phoi hap vai glocom
bam sinh, xem bang tra cufu I phan 7 (Glocom bam sinh).

5. TH E THUY TINH
- Andogsky. due the thuy tinh thupc tang di urng 15
- Butler: the thuy tinh hinh chop phxa trong 118
- Coppock: due the thuy tinh "coppock" 153
- Elschnig: hat chSu 199
- Koby: due the thuy tinh hinh hoa 397
- Morgagni: due th£ thuy tinh qu£ chin 490
- Soemmering (v6ng) 650
- Vogt: due th l thuy tinh ruft n£t 720

- Vogt: (dfi'u hi#u) 722
- Vossius: due the thuy tinh hinh vdng do dung dap 724
- Weill - Marchesani: the thuy tinh nh6, trbn va ngdn
dang 743.
Ghi chu: Nhufng benh \k hoi churng c6 trieu chufng ve
the thuy tinh, xem bang tra ctfu I, phln 8 (Due th£ thuy
tinh b£m sinh, bfi't thudng ve hinh dang v& vi tri).

21


6. DICH KINH
(Xem them bang tra ctfu I, ph£n 9, muc C

noi ve gia gliom)
- Benson, viem dich kinh hinh sao 58
- Favre: tho£i hda dich kinh - vong mac 212
/

- Goldmann - Favre: tho£i h6a dich kinh tapeto - vong
mac 275
- Irvine: hoi chtfng hau phiu d m&t khong c6n th£ thuy
tinh 356
- Wagner: loan dirdng dich kinh - vong mac 731

7. VONG MAC
a) THOAI HOA VONG MAC
Trung tam
- Best: thoai hoa hoang diem or tre em 63
- Batten - Mayou (Spielmeyer - Vogt - Stock): chiing ngu mu 45
- Behr: thoai hoa hoang diem di truyen d ngirdi ldn 53
- Braley: loan diforng da dang 98
- Coppez - Danis: thoai hoa hoang diem dich ri d ngirdi
gia 152
- Doyne: thoai hoa hoang diem kieu "tang to ong' 187
- Haab: thoai hoa ho&ng diem teo d ngi/di gi& 301
- Holthouse - Batten: thoai hda dang keo 339
- Jansky - Bielschowsky: churng ngu - mu muon 367

22


- Kufs: chiing ngu - mu a ngtfdi ldn 408
- Norman - Wood: chufng ngu - mu cf tre scf sinh 510

- Stargardt: thoai hoa hoang diem 659
- Sjogren: loan diiang mo ltfdi s&c to 645
- Sorsby: loan dtfong gia - viem 652
- Sorsby: lo khuyet hoang diem va hoi chufng da di dang 651
- Tay - Sachs: chufng ngu - mu kinh dien 680
Chu bien
- Alstrom (hoi chufng) 11
- Biemond (hoi chufng) 72
- Kearns (hoi chufng) 382
- Kurz (hoi chtfng) 410
- Leber: mu bam sinh 426
- Laurence Moon Bardet Biedl (hQi chufng) 420
- Nougaret: chtfng quang g k vo cSn gia dinh 513
- Oguchi: qudng ga b^m sinh 516
b) LOAN SAN (gi£ gliom)
- Lange (n§p gfi'p) 417
- Norrie (b^nh) 511
- Reese - Blodi: loan san vong mac 577
- Terry: xcr san sau the thuy tinh 684
c) H 0I CHLfNG THAN KINH - DA VA BENH U MACH
- Bonnet - Dechaume v k Bland: phinh mach roi vong
mac 90

23


Bourneville: xo hoa cu 96
Coats: viem vong mac dich ri ra ngo&i 140
Hippel (Von) - Lindau: u mac vong mac - tieu nao 331
Leber: u mach hat ke vong mac 424

Recklinghausen: u xo than kinh 575
Reese: u mach m£u mao mach 576
Sturge - Weber - Krabbe: u than kinh - mach nao mat 672
d) LINH TINH
Berlin: phu hoang diem do cha'n d6ng 60
Blessig: nang u vong mac chu bien 79
Bouchut: u hat ke hac - vong mac 95
Crowe: dau hieu trong huyet khoi xoang hang 160
Eales: viem quanh tinh mach vdi xuat huyet vong mac
dich kinh tai dien a ngUdi tre 193
Fuchs: cham sac to hoang diem d mdt can thi 249
Gonin - Vogt, mang ludi hang rao 276
Gunn: dau hieu b^t ch6o dong - tinh mach 298
Hirschberg: viem vong mac trung tam do dai thao
dudng 332
Leber: viem vong mac phu gia albumin 425
Purtscher: benh mach sau chan thuong 566
Roth: viem vong mac nhiem khuan 598
Sabin - Feldman: viem h£c - vong mac gia lo khuyet
hoang diem 603


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