1 1

2 1

3 1

4 1

5 2

6 2

7 2

8 2

9 2

10 2

11 2

12 2

13 3

14 4

15 5

6

congenital anophthalmus [1][2]

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:(congenital cyclopia)[1]1.05/100000() [2]

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:(congenital aniridia)[1][2]PAX6[3]

1.Tan JS, Tan KL, Lee JC, et al. Comparison of eye lens dose on neuroimaging protocols between 16- and 64-section multidetector CT: achieving the lowest possible dose. AJNR. 2009,30(2): 373-377.

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:(congenital macula coloboma)[1][2]

1.. [M]. 1998.165-168.

2.Chen MS, Yang CH, Huang JS. Bilateral macular coloboma and pigmented paravenous retinochoriodal atrophy[J]. Br J Ophthalmol. 1992,76(8):250-251.

:(total choroidal vascular atrophy)(progressive choroidal atrophy)(progressive tapetochorordal atrophy), X[1][2][3]

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:(congenital attolens oculi-apertor oculi adherence syndrome)[1]

:

1.. . . 1994, 30(2): 157-158.

Duane

:Duane(Duane syndrome)DuaneDuane retraction syndrome, DRS1%[1-2]

1.Engle EC. The genetic basis of complex strabismus[J]. Pediatr Res. 2006, 59:343-348.

2.Blaed PK, Mark AS, Kattah J, et al. MR of oculomotor nerve palsy. AJNR. 1995,16: 1665-1672.

:congenital fibrosis of extraocular muscles syndrome, CFEOM[1-2][3]

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congenital microcoria syndrome

SiegristSiegrist syndrome

Reese-EllsworthReese-Ellsworth syndrome

Oguchi

:OguchiOguchi syndromeCongenital night blindness[1][2-3]

1.. [J]. . 1984, 20364-365.

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3.. [J]. . 2000, 36(2): 152-153.

Komoto

KomotoKomoto syndrome[1]

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NorrieKomoto syndrome

Dalton

DaltonDalton syndrome, ,

Leber Congenital Amaurosis, LCA[1]1

[2]

[3]

1.. Leber

[J]. 1990,26126.

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early-onset retinitis pigmentosa[J]. Arch Ophthalmol, 1985, 103: 1502.

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ChoroideremiaX[1]

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:Congential retinal telangiectaisaCoats[1]

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-

:-Isolated anophthalmia - microphthalmia[1-2]

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:Isolated pure microphthalmia[1]

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/X

:Juvenile retinoschisisX-linked retinoschisisXX-linked Juvenile retinoschisis, XLRS[1][2-3]50%[3]

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2.George ND, Yates JR, Moore AT. X linked retinoschisis[J]. Br J Ophthalmol. 1995, 79: 697-702.

3.George ND, Yates JR, Moore AT. Clinical features in affected males with X-linked retinoschisis[J]. Arch Ophthalmol. 1996, 114: 274-280.

:Retraction syndromeDuaneDuaneDuane retraction syndrome, DRS1%[1-2]

1.Engle EC. The genetic basis of complex strabismus[J]. Pediatr Res. 2006, 59:343-348.

2.Blaed PK, Mark AS, Kattah J, et al. MR of oculomotor nerve palsy. AJNR. 1995,16: 1665-1672.

-

:Septo-optic dysplasia, SOD-[1]

1.Stangel M, Vogeley KT, Jandeck C, et al. Septooptische dysplasia(de-Morsier syndrome)[J]. Nervenarzt. 1998, 69: 352.

:Stargardt disease[1]0.1[2],"",

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:(Orbital Tuberculosis)[1]

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:Orbital Cysticercosis[1][2]

1.. 1[J]. . 2003, 11(6): 553.

2.. 1[J]. . 2004, 10(1): 68.

:Orbital paragonimiasis[1]

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:Orbital mycosis[1][2]

1.. 1[J]. . 2002, 10(1): 70.

2.. 1[J]. . 2000, 8(5):353.

:(Mycotic Canaliculitis)[1][2]

1.. [M]. . 1983: 298-317.

2.. [M]. . 1996, 16(3): 169-170.

:Orbital Sparganosis[1][2]

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2.. [J]. . 2002, 37(4): 295

:Orbital hydatidosis[1][2]

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2.. 13[J]. . 1993, 16(3): 225-226.

:(lachrymal gland inflammatory pseudotumor)S[1]

1.. [J]. . 2000, 18(2): 94-95.

:Orbital inflammatory pseudotumor[1-2][1][2]

1.. [J]. . 2006, 15(6): 396-399.

2.. 1[J]. . 2005, 26(5): 97-98.

:Lacrimal sac malignant granuloma[1]

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:(Corneal implantable cyst)[1-2][3]

1.Bloomfield SE, Jakobiec FA, Iwamoto T. Traumatic intrastromal cyst[J]. Ophthalmology. 1980, 87: 951.

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:(Orbital granuloma)

Benson

:Benson[1]

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:Retinitis PigmentosaRP[1]

1.. X[M]. . 1991, 14(4): 180-184.

:Blepharal Dysembryoma2-3[1]

1.. 1[J]. . 2002105 456.

:6%-9.2%[1]

1.. [M]. . 2004, 24(1): 90-91.

:Choroidal Osteoma[1][2]28%[3][1]

1.. 1[J]. . 2010, 18(5): 452.

2.Barkeh HI, Alias D, Muhava H, et al. Bone in the eye[J]. Am J Ophthalmol. 2003, 135: 254.

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:(Retinal Astrocystic Hamartoma)[1][2][1]

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2.. [J]. . 1994, 10(3): 132.

:(Capsulociliary Neurilemmoma) Schwans [1][2]

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:(Orbital Meningioma)[1][2]

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:Retinal Astrocystoma[1][2]I[3]II[4]

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:Orbital leiomyoma[1]

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25

:(Orbital fibrous histiocytomas)[1][2]3[1]

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:Retinoblastoma, RB[1][2][3]

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:(Orbital Chemodectoma)Orbital ParagangliomaOrbital non-chromaffin paraganglioma[1],[2][3]

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2.Straus C, Molcard S, Visot A, et al. Chemodectoma of the cauda equine[J]. Rev Rhum Engl Ed. 1997, 64(5): 345-347.

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:(Oncocyte adenoma of lacrimal sac)[1]

1.. 1[J]. . 1993, 29(1): 60-61.

:pleomorphic adenoma of lacrimal gland[1]20-50[2][3]

1.. [J]. . 2004, 4(8): 688-689.

2.. [M]. . 1995, 19: 99.

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Merkel

:Merkel(Merkelcell Carcinoma of eyelids, MCC)[1][2]

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:Orbital Hemangiopericyte[1]20-50[2]

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:Liposarcoma of eyes

:Retinoblastoma, RB[1][2][3]

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2.Poplack DG. Principles and practice of pediatric oncology[J]. Philadelphia: Lippincott-Raven. 1997: 697-715.

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67

:Acute Retinal Necrosis, ARN[1][2][3]

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3.. [J]. . 1999 154 265-267.

Choroid Ischemia

:Choroid Ischemia[1]

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:Retinal Macroaneurysm60-70[1][2]

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:(Iridosehisis)508070[1]

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:(Optical Type Mitochondria Myopathy)[1]

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Mobius

:Mobius--[1][2]

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2. , , . Mobius1[J]. . 2006, 39(6): 363.

Fuchs

:Fuchs(Fuchs Endothelial Dystrophy)Cornea Guttata, [1][2][3]

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:(optic atrophy)[1]

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:Cicatricial pemphigoid58-65[1]

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P4

:Coats diseaseCoats[1]

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:(Fundus flavimaculatus, FF)20[1]Stargard[2]

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34

Doyne

Junius-Kuhnt

:Jounius-KuhutBruch ,

Stargard

:Stargard[1]0.1[2],"",

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Sjorern

amaurotic family idiocy syndrome

:-Tay-Sachs diseaseAGM2, [1]

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Kufs

:Kufs, 15-30, , , , [1]

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Leber

:LebertmDNA[1][2]3-6

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Meyer-Schwickera

Krause

:KrauseKrause syndrome--[1]

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Greig

:Greig[1][2]

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2.. Greig[J]. . 1992, 10(2): 148.

Schwartz

:SchwartzSchwartz syndrome[1][2]

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2.Matsuo NTakabatake M, Ueno H, et a1Photoreceptor outer segments in the aqueous humor in rhegmatogenous retinal detachment[J]Am J Ophthalmol. 1986101673

:(Oral Congenital disease)

:Congenital ectopic submandibular gland[1]

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:(Congenital Oblique Facial Cleft)67[1]

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:Anodonia[1]

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:Fused Teeth and Macrodontia[1]

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:(Microdontia)[1]

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:Dentinogenesis imperfecta syndromeADC

:Amelogenesis imperfecta AI[1]3[2]

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2.Witkop CG. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification[J]. J Oral Pathol. 1989, 17(9-10): 547-553.

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:(Neonatal Pyogenic Parotitis)[1][2]

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:(periadenitis mucosa necrotica recurrens)1-4cm[1]

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:(Thyroglossal Duct Cyst, TDC)[1][2]

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:(Thyroglossal Fistula)[1]

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:Congenital Bronchial Cleft Cyst or Fistula[1][2]

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:Oral Heterotopic Gastrointestinal Cyst[1]

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:(Lymphoepithelial Cysts of Oral Cavity)[1][2][3-4]

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2.. [J]. .1996, 10(4): 231-232.

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:(Dermoid and Epidermoid cyst of mouth)[1]

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:(Cyst of Maxillary Gland)[1]

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:(Glandular Odontogenic Cyst)[1]X[1]

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:(Oral hamartoma)[1][2]

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:(Oral Fibroma)[1]

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:Lipoma of Oromaxillo-facial Region[1][2][3]

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:(Leiomyoma of Oromaxillo-facial Region)[1-2]

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:(Mural Ameloblastoma of Mandible)[1]

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:(Facial Nerve Tumor)5%[1]

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:(Facial Nerve Schwannoma)[1][2]

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:Oral Neurilemmoma[1][2]

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:Lingual Schwannoma[1][2]

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:(Oral Lymphangioma)[1][2]

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:(Dysembryoma of Oromaxillo-facial Region)2-3[1]

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:(Oral Chemodectoma)[1]

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:(Oral liposarcoma)15%4050 ,[1], ; ,:;;;[2]

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:( leiomyosar comaLMS) ,6% 7%,,[1][23]

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:(leiomyoblastoma of parotid ),, , . , ,

:( malignant melanoma, MM ) 15% , 20%MM MM , , MM , [1]

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:(malignant lymphoma, ML) ML1.39 /100.84 /10ML ML 10.7%23.6%NHL:HL 11.5:1[1]NHL, NHL, [2]

1.,. 79 .200410:99.

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:( Malignant Lymphoepithelial Lesion, MLEL) , , , , , , , [1]

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:(Primary malignant lymphoma of the parotid gland), 1%-7%[1],, ,

1.,.[J]., 2006,(10).

:(Myoepithelial carcinoma of parotid gland)1991WHO[1]60%70%[2]

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2.Jain M, Thomas S, Singh S. Indian J Pathol Microbiol,2006,493399- 401.

da Silveira EJ, Pereira AL, Fontora MC, et al. Rev Bras OtorrinolaringolEngl Ed,2006,724528- 532.

:(Thyroglossal duct carcinoma), , [1], , , 1% , , [23]

1.,,,.1 [J].-, 1999,6:249-250.

2.Heshmati H M, Fatourechi V, Van Heerden J A, et al. Thyroglossalduct carcinoma: report of 12 cases [J]. Mayo ClinProc,1997,72:315-319.

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:( metstatic tumors in the oral tissues) , 1%,, , [12]

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:(Tongue amyloidosis), , , , [1]

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:eosinophilic granuloma of boneEGB[1][234]

1.Miyamoto H, Dance G, Wilson DF, et al. J Oral Maxillofac Surg, 2000,585560-562.

2.Wong GB, Pharoah MJ, Weinberg S, et al. J Oral Maxillofac Surg, 1997, 558870-878.

3.,,. ,2003,11129-30.

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:Globodontia

:(oral mandibular dystonia)[1]

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4

:RombergsHemifacial Microsomia1846Romberg2, , , , [1]

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:(Vice- ear deformity)[1]

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:(Congenital ossicular anomalies)

:(Congenital middle ear cholesteatoma), 2. 5% ~ 3. 0% , , , , , , Derlacki:;;[1]

1. Darrouzet V, Duclos JY, Portm ann D, et a.l C ongen italm iddle ear

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eadN eck Surg, 2002, 126 ( 1) : 34- 40.

:(Congenital heminasal defect)

:(Congenital laryngeal prolapse)1[12]

1.[M]200755

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:(Congenital choanal occlusion)6

:(Additional dental nasal)[1][23]

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:(Congenital sinus cholesteatoma):, , , CT,, , , , [12]

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2., , , .[J]., 2001,15(5):376.

:(Pharyngeal diverticulum), 1%, 30~ 50, [1], , , ,

1.,,.[J]., 2010,(01):54.

:(Congenital laryngeal Ming), , , , , , [1], , ,

1., . [J]. , 2010,(23):94-95.

:(Congenital laryngeal cyst), , , , , , , , , [1]

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:(Brucellosis ear)

:(Otolaryngology actinomycosis)[1]

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:Laryngeal actinomycosisG+[1]

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:(Nasal disease bacteria spores), , , , [1]

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:(Retropharyngeal abscess)3 [1]

[2]

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:(Thyroid cartilage fracture), , , , , , , , , , ,

:(Cricoarytenoid joint dislocation), 0. 1%, ,,[12]

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2.USU I T, SA ITO S, GOTO F. A rytenoid dislocation while using a McCoy Laryngoscope[J]. Anesth Analg, 2001,92(5):1347-1348.

:(External auditory canal bone warts multiple provinces), , , ,, ,,[1], ,

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:Racemose hemangioma ear 1 [2]

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:Ear plexiform neurofibroma,,, , , , , , , , , , ,

:Sinus ossifying fibroma, , , , , [12], , ,

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:Maxillary nerve sheath tumors, [1],

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:Nasal leiomyoma, [1], , , ,, , , , , ,

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:Nasal sinus nerve sheath tumors, , 4%13 ~ 76, , , , , , , [1], , , CT , ,

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:( ectopic meningioma) , , , , , , , [1]

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:Nasopharyngeal transitional -type inverted papilloma,,, , [1], , , , , , , , , , [2]

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:Nose, sinuses , throat teratoma6%

:Oropharyngeal hamartoma, OHH[12]

1.,,. 1[J].,2008,15(8):487.

2.,[M].., 2000:378.

:adenoid cystic carcinoma in nasal cavity and paranasal sinuses, ACCACC)ACC[1] ACCl

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:Aortic arch defects[1,2],

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:Coarctation of the abdominal aortamiddle aortic syndromemid-aortic dysplastic syndromeTakayasu[1,2].Quain1847[3]22[4].

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Complete atrioventricular septal defect cAVSD

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Congenital absence of the pulmonary vale

:Absent pulmonary valve syndromeAPVS[1,2,3]3-6%APVS[4]

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Congential pulmonary veins stenosis

:Congential pulmonary veins stenosis0.4%[1][2][3][4].

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:Coronary arterial malformations[3]0.3%1.5% [1,2]

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:Double outlet right ventricle ,DORV:AndersonDORV50%50%[1,23][4]

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:Juvenile temporal arteritis,JTA Lie[1]20[1-4]

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:Left ventricular noncompactionLVNC[1-4][1-4],MRI

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Left ventricular hypertrabeculation

Marfan syndrome

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Pulmonary valve atresia,PVA

:Pulmonary valve atresia,PVA1%[3,4]I-II/VI[1,2]

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:Supravalvular aortic stenosisSAS 0.05%19937q112380%-85%[1,2][3,4]

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:Tricuspid atresia,TA1%-3%[1],[2] 70%1[3,4]

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:Uhl anomaly501905Osler1952Uhl[1,2],Uhl

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:cardiofacial syndrome1960Hoefnagel1969Cayler

:anaerobic infective endocarditis [1-2]2-16%[3-4][1]

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:nonbacterial thrombotic endocarditisNBTE [1,2]1888 Ziegler 50%25%[34]NBTE

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: cardiovascular beriberi [1][2,3,4]

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:cardiac hydatidosis 0.5%-2%[1][2,34].

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:allergic granulomatous angiitis Churg-Strauss syndrome (CSS)1951ChrugStrauss[2][1]610%44[3,4]

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:(systemic necrotizing vasculitis,SNV) SNVHBV1/3[5]SNVPAN()MPA()ANCA()WG(Wegener's)MPACSSChurg-Strauss[1-4]PAN

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:Takayasu syndrome,TA1908[1,2]20-30ESA[3,4]MarfanEhler-Danlos

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:Atypical coarctation of aorta,ACC[12] TakayasuCTMRI[3]--[4]

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:Giant cell arteritis, Horton diseaseGCA[1]50GCAT[1-3]20%[4],PETMRI[5]

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:Periarteritis nodosa1755Michaelis Matanni-50% [1,2,3] ,60%[4,3]

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:Polyarteritis nodosaPAN4%-45%[1,2][3-5],3580%41mg/kg/d950%[6]

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:Hrerrmann syndrome[1]3.5%70%[2][2,3][4,5]MRIdual exposure technique4[5]

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2. Burkett EL, Hersberger RE. Clinical and genetic issues in familial dilated cardiomyopathy. JACC 2005;45:969-81.

3. Mahon NG, Murphy RT, MacRae CA et al. Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease. Ann Intern Med 2005;143:108-15.

4. Baig MK, Goldman JH, Caforio AL et al. Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. JACC 1998;31:195-201.

:(Cardiac myxoma) 25%50%[1][2][3],3%[4]

1. Peter PJ, Reinhard S.The echocardiographic evaluation of intracardiac masses:a review. J Am Soc Echocardiogr,2006;19:230-240.

2. Nomeir AM,Watts LE, Seagle R et al. Intracardiac myxomas:twenty-year echocardiographic experience with review of the literature. J Am Soc Echocardiogr,1989;2:139-150.

3. Reardon MJ,Smythe WR.Cardiac neoplasms. In:Cohn LH,Edmunds LH eds.Cardiac surgery in the adult.2ndEd.McGrawHill Medical Publishing, New York,2003.

4. Van Gilder M,OBrien DJ,Staples ED et al.Familial cardiac myxoma Ann Thorac Surg,1992;53:419-424.

306

308

308

343

Hemangiopericytoma

Heart tumor of the child

310

310

Schwann 311

313

314

315

316

317

318

319

320

321

341

342

:Leopard syndrome:(Cardiocutaneous syndrome)1902Dareir1936Zeisler1968Walther[1,2,3,4]7a.bc.d.ef.g.[5]

1.19853:179.219864:190.3. 19885:324.4. 19901:59.5.199012,689.

:Ayerza syndromeAyerza-ArilagaOsler-VaquezaGiesbosk1891RombergAust[1,2,3][1,2,3,4,][4]

1.1953,3:178.2.1963,1:43.3.19792152.4.1981,4:269.

:Iliac vein compression syndrome,Cockett1965Calnan1965Cockett10-50[1]

1.,19883:244.

:Lenegre syndromeLevLenegreLenegreLev[1]II

1. Lev.M() 1976292.

:Zondek heart1981ZondekHashimoto[1,2,3,4]QRST113mZn[2,3,4,5]

1.195810:955.2. 195810:962.3. 19644:389.4. 196512:76.5. 19781:52.

:perieardial diaphragmatic adhesion syndromeDietlenXX

:Rummo

Congential pulmonary venous return anomaly

Pulmonary valve agenesis

Spongy myocardium

Supravalvular pulmonary stenosis

-Mid-aortic dysplastic syndrome

Diffuse angiokeratoma

:Fibromuscular dysplasia of arteries,,,,,,,,

20071111

:Hereditary brain cavernous angioma,0. 5%,,,,, , ,,

1.201034111030-1031.

Hereditary cerebral cavernous malforation

:Malignant paroxysmal ventricular tachycardia, MPVT

1 De Mattia L, Brieda M, Del Bianco F, Dametto E, Nicolosi GL. Polymorphic ventricular tachycardia induced by Valsalva manoeuvre in a patient with paroxysmal supraventricular tachycardia. Europace. 2011 Nov 23.

:Sudden unexplained nocturnal death syndromeSUNDS, ,:1, 2, 1113. 113, 24, 4, , ; 5, , [1,2]

1 Cheng J, Makielski JC, Yuan P, Shi N, Zhou F, Ye B, Tan BH, Kroboth S. Sudden unexplained nocturnal death syndrome in Southern China: an epidemiological survey and SCN5A gene screening. Am J Forensic Med Pathol. 2011 Dec;32(4):359-363.

2 Parekh B. The mechanism of dead-in-bed syndrome and other sudden unexplained nocturnal deaths. Curr Diabetes Rev. 2009 Nov;5(4):210-215.

:Thromboangiitis obliterans, TAO[1,2]

1 Patwa JJ, Krishnan A. Buerger's Disease (Thromboangiitis Obliterans)- Management by Ilizarov's Technique of Horizontal Distraction. A Retrospective Study of 60 Cases.Indian J Surg. 2011 Jan;73(1):40-47.

2 Hong F, He C, Liu X, Tu G, Guo F, Yang S. Protective effect of Shenfu injection on thromboangiitis obliterans model rats. J Ethnopharmacol. 2011 Nov 18;138(2):458-462.

:Wegener granulomatosis, WG[1,2]

1. Martinez F, Chung JH, Digumarthy SR, Kanne JP, Abbott GF, Shepard JA, Mark EJ, Sharma A. Common and Uncommon Manifestations of Wegener Granulomatosis at Chest CT: Radiologic-Pathologic Correlation. Radiographics. 2012 Jan;32(1):51-69.

2. Joseph M, Charles AG. Early extracorporeal life support as rescue for wegener granulomatosis with diffuse alveolar hemorrhage and acute respiratory distress syndrome: a case report and literature review. Pediatr Emerg Care. 2011 Dec;27(12):1163-1166.

:chediak-higashisyndrome,CHS[1][2][3]

1.Durchfort N, Verhoef S, Vaughn MB, Shrestha R, Adam D, Kaplan J, Ward DM. The Enlarged Lysosomes in beige(j) Cells Result From Decreased Lysosome Fission and Not Increased Lysosome Fusion. Traffic 2011.

2.Al-Khenaizan S. Hyperpigmentation in Chediak-Higashi syndrome. J Am Acad Dermatol 2003;49:S244-S246.

3.Blume RS, Wolff SM. The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine (Baltimore) 1972;51:247-280.

Gilbert

:Gilbertgilbert syndrome,GS[1]3-17%[2]12.4%4.8%UDP-glucuronosyltransferase,UGT[3]

1.Tapan S, Karadurmus N, Dogru T, Ercin CN, Tasci I, Bilgi C, Kurt I, Erbil MK. Decreased small dense LDL levels in Gilbert's syndrome. Clin Biochem 2011;44:300-303.

2.Fertrin KY, Goncalves MS, Saad ST, Costa FF. Frequencies of UDP-glucuronosyltransferase 1 (UGT1A1) gene promoter polymorphisms among distinct ethnic groups from Brazil. Am J Med Genet 2002;108:117-119.

3.Fevery J. Pathogenesis of Gilbert's syndrome. Eur J Clin Invest 1981;11:417-418.

Da Veal

Glasslen

Berendes-Bridges-Good

: Berendes-Bridges-GoodBerendes-Bridges-Goodsyndromechronic graulomatous diease,CGDNADPH[1]70%CGDX-X-CGD[2]AR-CGD[3]

1.Segal BH, Romani L, Puccetti P. Chronic granulomatous disease. Cell Mol Life Sci 2009;66:553-558.

2.D R, TW K, JT C. Primary immunodeficiency diseases:chronic granulomatous disease. New York, 2007:512-516.

3.Kang EM, Choi U, Theobald N, Linton G, Long PD, Kuhns D, Malech HL. Retrovirus gene therapy for X-linked chronic granulomatous disease can achieve stable long-term correction of oxidase activity in peripheral blood neutrophils. Blood 2010;115:783-791.

Chediak-Higashi

:chediak-higashisyndrome,CHS[1][2][3]

1.Durchfort N, Verhoef S, Vaughn MB, Shrestha R, Adam D, Kaplan J, Ward DM. The Enlarged Lysosomes in beige(j) Cells Result From Decreased Lysosome Fission and Not Increased Lysosome Fusion. Traffic 2011.

2.Al-Khenaizan S. Hyperpigmentation in Chediak-Higashi syndrome. J Am Acad Dermatol 2003;49:S244-S246.

3.Blume RS, Wolff SM. The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine (Baltimore) 1972;51:247-280.

Jordan

:Jordan1953

myelodysplastie syndrome

:myelodysplatie syndrome, MDS[1]

1.Benesch M, Deeg HJ, Wells D, Loken M. Flow cytometry for diagnosis and assessment of prognosis in patients with myelodysplastic syndromes. Hematology 2004;9:171-177.

Gunther

:congenital erythropoietic porphyria, CEPGunther[1]4-[2]

1.Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol 2002;117:779-795.

2.To-Figueras J, Badenas C, Mascaro JM, Madrigal I, Merino A, Bastida P, Lecha M, Herrero C. Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria. Blood Cells Mol Dis 2007;38:242-246.

Waldenstrom

:(waldenstrom macroglobulinemia, WM)1944Jan Gosta Waldenstrom[1]IgMB[2]WMIgMWMWHOB

1.Gertz MA. Waldenstrom macroglobulinemia: a review of therapy. Am J Hematol 2005;79:147-157.

2.Ansell SM, Kyle RA, Reeder CB, et al. Diagnosis and management of Waldenstrom macroglobulinemia: Mayo stratification of macroglobulinemia and risk-adapted therapy (mSMART) guidelines. Mayo Clin Proc 2010;85:824-833.

Herrick

:Herricksickle cell anemia, SCA, 6[1]S (hemoglobin S, HbS)[2]

1.. 87. 2002:170-171.

2.Serjeant GR. Sickle-cell disease. Lancet 1997;350:725-730.

Minkowski-Chauffard

:-Minkowski-Chaoffard syndrome[1]

1.Casale M, Perrotta S. Splenectomy for hereditary spherocytosis: complete, partial or not at all? Expert Rev Hematol 2011;4:627-635.

Lennart-Juhlin

Bruton

:BrutonBruton1/50000[1].XXq21.3-22X-X-linked agammaglobulinemia, XLAXq21.3-22BtkIgG2g/LIgM0.1 g/LIgA0.05 g/LTB[2]

1.. BtkXLA. () 1998:248-251.

2., . . 1996:59-62.

Pfeiffer

:Pfeiffer1964Pferffer[1]18p11.2~p12[2]1fibroblast growth factor receptor 1, FGFR1

1.Naveh Y, Friedman A. Pfeiffer syndrome: report of a family and review of the literature. J Med Genet 1976;13:277-280.

2.Rasmussen SA, Frias JL. Mild expression of the Pfeiffer syndrome. Clin Genet 1988;33:5-10.

Acute hepatic prophyria

:acute hepatic prophyria5acute intermittent porphyria , AIPALAAIP

Acute intermittent porphyria

:acute intermittent porphyria , AIPAIP[1]

1.Prabahar MR, Manorajan R, Sathiyakumar D, Soundararajan P, Jayakumar M. Hemodialysis: a therapeutic option for severe attacks of acute intermittent porphyria in developing countries. Hemodial Int 2008;12:34-38.

Autosomal Agammaglobulinemia

:autosomal recessive agammaglobulinemia, ARABB[1]T5%[2, 3]

1.Conley ME, Rohrer J, Rapalus L, Boylin EC, Minegishi Y. Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse. Immunol Rev 2000;178:75-90.

2.Conley ME, Broides A, Hernandez-Trujillo V, Howard V, Kanegane H, Miyawaki T, Shurtleff SA. Genetic analysis of patients with defects in early B-cell development. Immunol Rev 2005;203:216-234.

3.Ferrari S, Zuntini R, Lougaris V, Soresina A, Sourkova V, Fiorini M, Martino S, Rossi P, Pietrogrande MC, Martire B, Spadaro G, Cardinale F, Cossu F, Pierani P, Quinti I, Rossi C, Plebani A. Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. Genes Immun 2007;8:325-333.

Chronic hepatic porphyria

KCombined deficiency of vitamin K-dependent clotting factors

:Kvitamin K-dependent clotting factor deficiency, VKCFD[1]KK

1.Shearer MJ. Vitamin K deficiency bleeding (VKDB) in early infancy. Blood Rev 2009;23:49-59.

Congenital dyserythropoietic anemia

:congenital dyserythropoietic anemia, CDA[1]

1.Gasparini P, Miraglia DGE, Delaunay J, Totaro A, Granatiero M, Melchionda S, Zelante L, Iolascon A. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. Am J Hum Genet 1997;61:1112-1116.

ALAALA Dehydratase deficiency

:ALAALA Dehydratase deficiencyALA

Hemophilia

:HemophiliaXAHA/BHBF/F5~10/10[1]

1.Usner DW, Donfield SM, Sirois PA, Gomperts ED, Bale JJ, Mitchell WG. Hemophilia morbidity, cognitive functioning, and academic achievement. J Pediatr 1998;133:782-787.

Hereditary angioedema

:hereditary angioedema, HAE[1]HAEC1C1 esterase inhibitor, C1-INH1/10000~1/150000[2]

1., . . 2000:501.

2.Nzeako UC, Frigas E, Tremaine WJ. Hereditary angioedema: a broad review for clinicians. Arch Intern Med 2001;161:2417-2429.

Hereditary Willebrand disease

-Rendu-Osler disease

:HHTOsler-Weber-Rendu12.2/100000~20/100000[1]

1.Bergler W, Gotte K. Hereditary hemorrhagic telangiectasias: a challenge for the clinician. Eur Arch Otorhinolaryngol 1999;256:10-15.

Severe congenital neutropenia

:severe congenital neutropenia, SCNmyelodysplastic syndrome, MDSacute myeloid leukemia, AML[1]HS1X1[2]

1.Boztug K, Welte K, Zeidler C, Klein C. Congenital neutropenia syndromes. Immunol Allergy Clin North Am 2008;28:259-275.

2.Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C. Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia. J Pediatr 2011.

ASymptomatic form of hemophilia A in female carriers

BSymptomatic form of hemophilia B in female carriers

Von Willebrand disease

:von Willebrands disease, vWD[1][2]

1.Derkay CS, Werner E, Plotnick E. Management of children with von Willebrand disease undergoing adenotonsillectomy. Am J Otolaryngol 1996;17:172-177.

2.Berlucchi M, Tomenzoli D, Nicolai P, Lusk RP. Adenotonsillectomy in children with von Willebrand's disease: how and when. A case report with review of the literature. Int J Pediatr Otorhinolaryngol 2002;65:253-256.

Von Willebrand disease, platelet type

:Von Willebrand disease, platelet typevon Willebrands disease, vWDvWDvWFGPb--GPb--vWFGPb--vWFvWF[1]vWFFF

1.Dong JF, Sae-Tung G, Lopez JA. Role of glycoprotein V in the formation of the platelet high-affinity thrombin-binding site. Blood 1997;89:4355-4363.

:acute basophilic leukemia, ABLacute myelogenous leukemia, AMLCD13CD33CD34HLA-DR[1]ABL[2]

1.Pidala J, Pinilla-Ibarz J, Cualing HD. A case of acute basophilic leukemia arising from chronic myelogenous leukemia with development of t(7;8)(q32;q13). Cancer Genet Cytogenet 2008;182:46-49.

2.Ghosh I, Bakhshi S, Gupta R. Acute basophilic leukemia in an infant with proptosis. Indian J Pathol Microbiol 2011;54:210-211.

:(large granular lymphocytic leukemiaLGLL)CD3-C3+McKenna1977[1]TLGLLNKLGLL[2]

1.McKenna RW, Parkin J, Kersey JH, Gajl-Peczalska KJ, Peterson L, Brunning RD. Chronic lymphoproliferative disorder with unusual clinical, morphologic, ultrastructural and membrane surface marker characteristics. Am J Med 1977;62:588-596.

2.Dasanu CA, Bauer F. Large granular lymphocytic (LGL) leukemia in an adult with Down syndrome (47,XX,+21). Leuk Res 2010;34:e125-e127.

:hairy cell leukemia, HCLB[1]2-3%[2]1958BouroncleB[3]

1.Au WY, Kwong YL, Ma SK, Mak YK, Wong KF, Lei KI, Ng MH, Chan JC, Lin SY, Lee KK, Liang R. Hairy cell leukemia in Hong Kong Chinese: a 12-year retrospective survey. Hematol Oncol 2000;18:155-159.

2.Goodman GR, Bethel KJ, Saven A. Hairy cell leukemia: an update. Curr Opin Hematol 2003;10:258-266.

3.Pettitt AR, Zuzel M, Cawley JC. Hairy-cell leukaemia: biology and management. Br J Haematol 1999;106:2-8.

Balfour

:chloroma or granulocytic sarcoma[1]

1.Koudstaal MJ, van der Wal KGH, Lam KH, Meeuwis CA, Speleman L, Levin MD. Granulobytic sarcoma(chloroma) of the oral cavity:Report of a case and literature review. Oral Oncology Extra 2006;42:70-77.

BrillSymmes

:follicular lymphoma, FL1418q32q21bcl-2B[1]B

1.Viardot A, Barth TF, Moller P, Dohner H, Bentz M. Cytogenetic evolution of follicular lymphoma. Semin Cancer Biol 2003;13:183-190.

Castleman

:Castleman(Castlemans diseaseCD)[1]Castleman1954Castleman[2]

1.Enomoto K, Nakamichi I, Hamada K, Inoue A, Higuchi I, Sekimoto M, Mizuki M, Hoshida Y, Kubo T, Aozasa K, Hatazawa J. Unicentric and multicentric Castleman's disease. Br J Radiol 2007;80:e24-e26.

2.CASTLEMAN B, TOWNE VW. Case records of the Massachusetts General Hospital; weekly clinicopathological exercises; founded by Richard C. Cabot. N Engl J Med 1954;251:396-400.

Rosodi

Acute lymphoblastic leukemia

:acute lymphoblastic leukemia,ALLBT[1]

1.de Oliveira JC, Scrideli CA, Brassesco MS, Morales AG, Pezuk JA, Queiroz RD, Yunes JA, Brandalise SR, Tone LG. Differential MiRNA expression in childhood acute lymphoblastic leukemia and association with clinical and biological features. Leuk Res 2011.

Acute megacaryoblastic leukemia

:acute megacaryoblastic leukemia, AML/[1][2]

1.Slovak ML, Kopecky KJ, Cassileth PA, Harrington DH, Theil KS, Mohamed A, Paietta E, Willman CL, Head DR, Rowe JM, Forman SJ, Appelbaum FR. Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group Study. Blood 2000;96:4075-4083.

2.Byrd JC, Mrozek K, Dodge RK, Carroll AJ, Edwards CG, Arthur DC, Pettenati MJ, Patil SR, Rao KW, Watson MS, Koduru PR, Moore JO, Stone RM, Mayer RJ, Feldman EJ, Davey FR, Schiffer CA, Larson RA, Bloomfield CD. Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461). Blood 2002;100:4325-4336.

Acute monocytic leukemia

:acute monocytic leukemia, AMoL

Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

:polycythemia vera, PV[1] 5/100[2]

1.Bai J, Shao ZH, Liu H, Shi J, Cao YR, Tu MF, Wu YH, Jia HR, Sun J, Cui ZZ, Qian LS, Yang CL. [Expression of apoptosis related proteins in CD34 positive bone marrow cells of patients with polycythemia vera]. Zhonghua Xue Ye Xue Za Zhi 2004;25:617-620.

2.Kwaan HC, Wang J. Hyperviscosity in polycythemia vera and other red cell abnormalities. Semin Thromb Hemost 2003;29:451-458.

Schultz

Letterer-Siwe

:Letterer-Siwe210%[1]

1.Rakesh SV, Thappa DM. Quiz. Langerhans cell histiocytosis (Letterer-Siwe disease). Indian J Dermatol Venereol Leprol 2003;69:241-242.

Pelger

Vaughan

:myelodysplasisMD-myelofibrosisMFMD-MFSMDMFMDSMF[1]

1.Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002;100:2292-2302.

myelonic necrosis syndrome

:myelonicnicrosis syndrome[1][2]

1.Lee YH, Hong YC, Yang CF, Wu HT, Huang LJ, Tzeng CH, Liu CY. Severe extensive bone marrow necrosis from miliary tuberculosis without granulomas and pulmonary presentations. J Chin Med Assoc 2010;73:208-211.

2.Kato M, Kikuchi A, Oshima K, Yamamoto S, Mochizuki S, Arai K, Hanada R. [Pediatric acute lymphoblastic leukemia initially presenting with bone marrow necrosis]. Rinsho Ketsueki 2007;48:140-143.

auto limits acute aplastic anemia syndrome

Nidoko

: epidemic hemorrhagic fever, EHF[1]

1.. . 2011:101.

angiofollicular lymph hyperplasia

autoimmune hemolytic anemia,warm type

:warm autoimmune hemolytic anemia, WAIHAIgG[1][2]

1.Stahl D, Lacroix-Desmazes S, Barreau C, Sibrowski W, Kazatchkine MD, Kaveri SV. Altered antibody repertoires of plasma IgM and IgG toward nonself antigens in patients with warm autoimmune hemolytic anemia. Hum Immunol 2001;62:348-361.

2.Lambert JF, Nydegger UE. Geoepidemiology of autoimmune hemolytic anemia. Autoimmun Rev 2010;9:A350-A354.

autoimmune lymphoproliferative syndrome

:Autoimmune lymphoproliferative syndrome,ALPSFas[1][2]ALPS[3]

1.Infante AJ, Britton HA, DeNapoli T, Middelton LA, Lenardo MJ, Jackson CE, Wang J, Fleisher T, Straus SE, Puck JM. The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J Pediatr 1998;133:629-633.

2.Canale VC, Smith CH. Chronic lymphadenopathy simulating malignant lymphoma. J Pediatr 1967;70:891-899.

3.Goldman FD, Vibhakar R, Puck JM, Straus SE, Ballas ZK, Hollenback C, Loew T, Thompson A, Song K, Cook RT. Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome. Clin Immunol 2002;104:31-39.

autoimmune agammaglobulinemia

Castleman disease

: castlemans disease, CD[1]Castleman1956[2]

1.Seida A, Wada J, Morita Y, Baba M, Eguchi J, Nishimoto N, Okino T, Ichimura K, Yoshino T, Makino H. Multicentric Castleman's disease associated with glomerular microangiopathy and MPGN-like lesion: does vascular endothelial cell-derived growth factor play causative or protective roles in renal injury? Am J Kidney Dis 2004;43:E3-E9.

2.CASTLEMAN B, IVERSON L, MENENDEZ VP. Localized mediastinal lymphnode hyperplasia resembling thymoma. Cancer 1956;9:822-830.

chronic cold agglutinin disease

:Chronic cold agglutinin disease,CDAcold agglutinins,CAsIgM[1]

1.Berentsen S, Tjonnfjord GE, Brudevold R, Gjertsen BT, Langholm R, Lokkevik E, Sorbo JH, Ulvestad E. Favourable response to therapy with the anti-CD20 monoclonal antibody rituximab in primary chronic cold agglutinin disease. Br J Haematol 2001;115:79-83.

Cold agglutinin disease

:cold agglutinin disease, CADIgMCAD[1]

1.Chng WJ, Chen J, Lim S, Chong SM, Kueh YK, Lee SH. Translocation (8;22) in cold agglutinin disease associated with B-cell lymphoma. Cancer Genet Cytogenet 2004;152:66-69.

Cold agglutinin syndrome

Cryoglobulinemic vasculitis

Cyclic neutropenia

:Cyclic neutropeniaSutton3134~20[1]1/3[2]

1., , , , . 1. 2008;8:3997-3998.

2.. . 1996;14:305-306.

Drug-induced AIHA

:drug-induced autoimmune hemolytic anemia, DAIHACombs[1]

1., , . . : , 2003.579-581

Essential mixed cryoglobulinemia

:Essential mixed cryoglobulinemia, EMCIgGIgMIgGIgAIgG FcIgG-IgM[1]

1., . . 2006:56-58.

Essential thrombocythemia

:essential thrombocythemia, ET[1]

1.Briere J, Guilmin F. Management of patients with essential thrombocythemia: current concepts and perspectives. Pathol Biol (Paris) 2001;49:178-183.

Familial megaloblastic anemia

Giant platelet syndrome

:Bernard-Soulie