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Townes-Brocks Syndrome Questionnaire
Please fill out for each affected family member and send back to:
Dr. Jürgen Kohlhase, Institute for Human Genetics, Heinrich-Düker-Weg 12,
D-37073 Göttingen, Germany. Fax: +49-551-39-9303. Email: jkohlha@gwdg.de
| Name of patient: |
date of birth: |
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| DNA number: |
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| ethnic origin: |
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| Symptoms/ features: |
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| EARS |
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| malformations: |
O yes (please specify: |
O no |
| Hearing: Audiometry performed: |
O yes |
O no |
| Sensorineural hearing loss: |
O yes left: |
dB, right: |
dB |
O no |
| Conductive hearing loss: |
O yes left: |
dB, right: |
dB |
O no |
| ANUS |
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| Imperforate anus: |
O yes |
Grade: |
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O no |
| Fistulas: |
O yes |
O no |
other anal anomalies (constipation, raphe): |
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| HANDS |
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| Preaxial Polydactyly: |
O yes |
O no |
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| Syndactyly: |
O yes |
Fingers: |
O no |
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| Triphalangeal thumbs: |
O yes |
O no |
other hand anomalies (please specify): |
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| Hand X-ray performed: |
O yes |
O no |
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| FEET |
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| Syndactyly: |
O yes Toes: |
O no |
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| other feet malformations/ anomalies |
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| KIDNEYS |
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| Ultrasound: |
O normal size and structure |
O anomalies (please specify): |
| Urine analysis: |
O normal |
O pathological (please specify): |
| Creatinin clearance: |
O normal |
O pathological (please specify): |
| Urogenital region: |
O normal |
O anomalies (please specify): |
| HEART |
O normal |
O congenital heart defect |
type: |
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O cardiac ultrasound not performed |
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| PSYCHOMOTOR DEVELOPMENT |
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| Mental retardation: |
O yes, grade: |
IQ: |
test method: |
O no MR |
| Not assessed: |
O yes |
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: : :
Other symptoms not listed above (please list all noted abnormalities):
Name of investigator::
Institution:
Address:
Date: |
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