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Brochure of Waardenburg syndrome

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第一章 給罕病家庭的話

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第二章 疾病面面觀

Waardenburg Syndrome 1.43~3% 嵴 Melanocyte PAX3 MITF EDN3-3 (EDNRB) B (SOX10) P.27 22

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Sensorineural hearing loss Heterochromai irides Poliosis 1. >100 Temporal bone 2. 24

3. white forelock 30 Leukoderma 4. 25

25% 9~38% 20~40% 50% 80% 80~99% 26

PAX3 2q35 (WS1) 2A MITF 3p14.1-p123 2B 1p21-p13.3 2C 8p23 (WS2) 2D SNAI2 8q11 (WS3) 2E SOX10 22q13 PAX3 2q35 (WS4) 4A EDNRB 13q22 4B EDN3 20q13.2-q13.3 4C SOX10 22q13 27

Lateral displacement of the inner canthi; dystopia canthorum WS1 (%) WS2 (%) 47-58 77-80 15-31 42-54 43-48 16-23 23-38 14-30 22-36 5-12 52-100 0-14 63-73 7-12 K l e i n - Waardenburg syndrome Waardenburg-Shah syndrome 28

EDN3 EDNRB SOX10 Penetrance PAX3 85% 85% 29

Waardenburg Consortium 1992 1. 2. 3. 4. W >1.95 5. 30

1. 2. 3. / Prominent columella 4. Hypoplastic alae nasi 5. 30 W W index a b c X = 2a 0.2119c + 3.909 /c Y = 2a 0.2479b + 3.909 /b W= X + Y + a/b W 1.95 W 1.95 25~28mm 12~15mm 30mm 30~34mm 34~40mm 40mm 31

PAX3 90% PAX3 6% PAX3 10%-20% MITF SOX10 EDNRB EDN3 SOX10 P.52 32

10~12 16~18 DNA 33

祕 34

60% 80% >100 35

Temporal bone HRCT Corti's organ 12 Cochlear implantation 36

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36-72 1. ABR Click ABR + Tone Burst ABR 2. 3. OAE 38

4. ASSR Tone Burst ABR ASSR 5. ABR ABR 1. ABR 2. 1316 39

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20% 75% 10% 15% 2% 1% 4:1 95% 24 2 13 46

X X Anorectal manometry Acetylcholinesterase 1 47

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1/2 1/4 1/2 51

(WS1) (WS2) (WS3) (WS4) PAX3 2A MITF 2B 2C 2D SNAI2 2E SOX10 PAX3 4A EDNRB 4B EDN3 4C SOX10 52

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1) National Organization for Rare Disorders http://www.rarediseases.org/rare-diseaseinformation/rare-diseases/byid/430/viewabstract 2) Hearing Loss Association of America http://www.hearingloss.org e-mail: info@hearingloss.org 54

1) 20 6 (02) 2521-0717 http://www.tfrd.org.tw 2) 1996 11 (02) 2788-8122 3) 112 45 (02) 2820-1825 http://www.nwlhif.org.tw 4) 60 4F 0800-889-881 http://www.chfn.org.tw 55

OMIM:Waardenburg Syndrome, TYPE I; http://www.ncbi.nlm.nih.gov/entrez/dispomim. cgi?id=193500 OMIM:Waardenburg Syndrome, TYPE 2A; http://www.ncbi.nlm.nih.gov/entrez/dispomim. cgi?id=193510 Gene Reviews: Waardenburg Syndrome TYPE I; h t t p : / / w w w. n c b i. n l m. n i h. g o v / b o o k s h e l f / br.fcgi?book=gene =ws1 http:// www.genes-at-taiwan.com.tw 1997 3 281 195 http://www.tfrd. org.tw/cindex.php 2006 3 1994 9 1 Fisch, L. 1959. Deafness as part of an hereditary syndrome. J Laryngol Otol 73, 355-82. 56

Hageman, M.J., Delleman, J.W. 1977a. Heterogeneity in Waardenburg syndrome. Am J Hum Genet 29, 468-85. Hageman, M.J., Oosterveld, W.J. 1977b. Vestibular findings in 25 patients with Waardenburg's syndrome. Arch Otolaryngol 103, 648-52. Hildesheimer, M., Maayan, Z., Muchnik, C., Rubinstein, M., Goodman, R.M. 1989. Auditory and vestibular findings in Waardenburg's type II syndrome. J Laryngol Otol 103, 1130-3. Liu, X.Z., Newton, V.E., Read, A.P. 1995. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. Am J Med Genet 55, 95-100. Nemansky, J., Hageman, M.J. 1975. Tomographic findings of the inner ears of 24 patients with Waardenburg's syndrome. Am J Roentgenol Radium Ther Nucl Med 124, 250-5. Reynolds, J.E., Meyer, J.M., Landa, B., Stevens, C.A., Arnos, K.S., Israel, J., Marazita, M.L., Bodurtha, J., Nance, W.E., Diehl, S.R. 1995. Analysis of variability of clinical manifestations in Waardenburg syndrome. Am J Med Genet 57, 540-7. 57

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第三章 Q&A 問與答

Q A Q A Waardenburg Syndrome sensorineural hearing loss heterochromai irides poliosis Q A 1. 1/2 60

Q A 2. 1/4 1/2 Q A Q A 祕 61

Q A Q? A 91 9 1 96 7 11 101 7 11 WHO ICF ICF 62

Q A Q? A http://www.cbi.gov.tw/ Q? A 63

Q A 1. 1 2 64

Q A 3 4 2. 1 2 3 4 3. 1 2 3 65

4 5 4. 1 2 3 Q? A 66

Q A? 1. 2. 3. 4. 5.? 1. 80% 67

2. (1) (2)? 1. 2. 3. : (1) p.69 (2) (3) (4) p.71 4. 68

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Q A 02 2787-8200 Q < >? A 91 9 p.74 30 IC 73

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Q A Q A 1. 1 2. Q?? A 1. 75

2. (1) (2) Q A 1. 1. 2. 3. 2. 1. 76

Q A 2. 3. 1. 104 7 11 108 7 10 2. 101 7 11 104 7 10 3. 104 7 77

4. http://www.doh.gov.tw http://www.topwin.com.tw/moi/index.html 78

第四章 心情留言板

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(CIP). -- 101. 12 ISBN 978-986-86450-4-2 1. 417.9 101026613 20 6 http://www.tfrd.org.tw/ E-mail tfrd@tfrd.org.tw 19343551 02 2521-0717 101 12 ISBN 978-986-86450-4-2 02-2521- 0717 All rights reserved. Any forms of using or quotation, part or all should be authorized by copyright holder Taiwan Foundation for Rare Disorders. Please contact Taiwan Foundation for Rare Disorders. TEL 886-2-2521-0717