Genetic Analysis of Limb Malformations Michael Bamshad, MD QUESTIONNAIRE Date ___/____/____

NAME (Person with clubfoot) ______Date of Birth___/____/____ M F

Mother's name______Date of birth___/____/____ Ethnic origin ______Father's name______Date of birth___/____/____ Ethnic origin ______

Address______Home Phone number: ______Work Phone number: ______E-mail address:______▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫▫ DIAGNOSIS

1. What is the diagnosis? Clubfoot Vertical Talus Distal Amyoplasia Arthrogryposis Other ______Who made the diagnosis?______Where?______Age at diagnosis ______

PHYSICAL FINDINGS/MEDICAL PROBLEMS

2. Please indicate which feet are affected. Both feet Right Left foot If individual has only one clubfoot, is the other foot normal?...... Yes No

3. Has individual with clubfoot undergone any surgeries?...... Yes No Total number of hospitalizations: Date Type of Surgery/Procedure Name of Hospital/Location/Surgeon ______

4. Has individual with clubfoot experienced limitation of movement/ of the following joints? Upper limbs: hands/fingers wrist Lower Limbs: Other body parts: neck back other (Please describe)______

5. Please indicate if the individual with clubfoot has any of the following problems:

(curvature of spine) hernias pneumonias/respiratory infections if male, undescended testicles strabismus (wandering eyes) difficulty moving eyes (ophthalmoplegia) cleft lip/palate other (for example, heart problem) please describe: ______

6. Is there a history of hearing loss? ……………………………..………………………………...... Yes No

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7. Has individual with clubfoot ever had any fractures?...... Yes No

8. Has individual with clubfoot experienced dislocation of any joints? ……………………………...Yes No If yes, which joint(s)?

PREGNANCY, BIRTH & ENVIRONMENTAL HISTORY

9. Birth weight______Birth length______Hospital of birth______City/state (Province/country)______

10. Did mother take medications during pregnancy?...... Yes No If yes, please list medications.

11. Did mother take multivitamins during pregnancy? ...... Yes No If yes, please indicate during which month(s). 1st – 3rd month 4th – 6th month 7th – 9th month

12. How many alcoholic drinks per day did mother consume during pregnancy? None Less than 1 drink/day 1-2 drinks/day 3-4 drinks/day 5-6 drinks/day 7-9 drinks/day 10 or more drinks/day If yes, please indicate what type (check all that apply). Beer and/or Wine Cocktails Other:______During which month(s) did the mother consume alcohol? 1st – 3rd month 4th – 6th month 7th – 9th month

13. How many cigarettes did the mother smoke during pregnancy? More than 1 pack/day About 1 pack/day More than 1 pack/week About 1 pack/week Less than 1 pack/week None

14. Was there either of the following: extra present (polyhydramnios) low amniotic fluid (oligohydraminos) (amniotic fluid is fluid surrounding the baby within the womb) If yes, was extra or low amniotic fluid detected on ultrasound?...... Yes No If No, how was it detected?______How far along was the pregnancy when abnormal fluid amount was noted? 1st – 3rd month 4th – 6th month 7th – 9th month

15. Was there any bleeding during the pregnancy? ……………...... Yes No

Clubfoot Questionnaire Page 2 of 5 Genetic Analysis of Limb Malformations Michael Bamshad, MD If yes, when did bleeding occur? 1st – 3rd month 4th – 6th month 7th – 9th month

16. Was an amniocentesis performed?…………………….…………...... Yes No If yes, when was amniocentesis performed? 1st – 3rd month 4th – 6th month 7th – 9th month

17. Was chorionic villus sampling (CVS) performed? ………...... Yes No If yes, when was CVS performed? 1st – 3rd month 4th – 6th month 7th – 9th month

18. Was the baby with clubfoot active (moving and kicking) within the womb?...... Yes No If mother had other pregnancies, was the movement similar / more / less than other pregnancies?

19. Were there any complications of pregnancy?...... Yes No If yes, please describe.

20. Type of delivery: Vaginal C-section

21. Baby's position: Head first Feet first Transverse Breech (sideways) 22. Was the baby full-term?...... Yes No If known, what was the gestational age at birth?______

23. What physical findings did you or the doctors note at birth or shortly thereafter?

24. Were there any medical complications in the newborn period?...... Yes No If yes, please describe.

Did these problems delay discharge from the hospital?...... Yes No Age at discharge from nursery. ______

TESTING

25. Has the individual with clubfoot ever seen a geneticist?...... Yes No Name of geneticist______Hospital or clinic where seen by geneticist______Approximate date or dates seen by geneticist ______

26. Has a chromosome study ever been done?...... Yes No If Yes, where?______Date of chromosome study ___/____/____ Was the chromosome study normal?.……………………………………………………………...... Yes No If the chromosomes were abnormal, please describe:

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27. Has a muscle biopsy been done?...... Yes No If yes, where?______Date of muscle biopsy___/____/____ Was the muscle biopsy normal?...... Yes No If the muscle biopsy was abnormal, please describe:

28. Has an EMG (electromyogram- electrical study of muscle) been done?...... Yes No If yes, where?______Date of EMG___/____/____ Was the EMG normal?...... Yes No If the EMG was abnormal, please describe:

29. Has individual with clubfoot ever had any difficulties with anesthesia? ……………………...... Yes No If yes, please describe:

30. Has individual with clubfoot ever been diagnosed as having malignant hyperthermia or muscle rigidity? …..…………………………………………………………………………………………………….....Yes No Please describe:

31. Please describe any other medical testing which might be significant, including location and dates of testing.

DEVELOPMENTAL HISTORY

Does the individual with clubfoot have a developmental delay? (If No, Skip to question 43)……...…Yes No If yes, has developmental testing been done?...... Yes No Where was testing done?______When was testing done? ______

32. In what areas is there a delay? motor skills mental both motor and mental

Motor Development

33. Did the individual with clubfoot receive physical therapy?...... Yes No What special devices are used for ambulation? corrector splints/braces (describe areas with splints/braces)______walker wheelchair motorized wheelchair or cart none other (Please describe): ______

Speech Development 34. Did the individual with clubfoot experience speech delay or speech problems? …………..….Yes No If yes, please indicate areas of difficulty: nasal quality to speech articulation problems delayed speech other (Please describe):______

Clubfoot Questionnaire Page 4 of 5 Genetic Analysis of Limb Malformations Michael Bamshad, MD 35. Did the individual with clubfoot undergo any type of speech therapy?...... ….Yes No If yes, at what age ______and for how long?______

Physical Development 36. What is the current height and weight of the individual with clubfoot? Height:______Weight:______Age:______

37. Type of feeding in infancy: Breast (How long breastfed?______months) Breast with supplemental bottles Bottle by choice Bottle, breastfeeding unsuccessful Other (Please describe):______

38. Was a special nipple ever required? …………………………………………………………….....Yes No If yes, what type?______Age when used?______

39. Was tube feeding ever required? …..…………………………………………………………...…..Yes No If yes, indicate time period used.______Why was tube feeding necessary?

40. Was a gastrostomy needed?...... Yes No Age at placement?______How long was a gastrostomy used?______

41. Has the individual with clubfoot ever had GE reflux?...... Yes No Was the GE reflux treated with: medication reflux board surgery other (Please describe):

42. When did individual with clubfoot feed orally? since birth not until age______

FAMILY HISTORY

43. Are there any other individuals in the family who have been suspected or diagnosed as having clubfoot? If yes, who is affected? (name and relationship)

44. Are the parents of the individual with clubfoot related by blood?...... Yes No If yes, how are they related?______Mother’s ethnicity ______Father’s ethnicity ______

Sibling's name Sex DOB Half/Full sibling? Affected with clubfoot? ______Thank you for completing this questionnaire. Your input will help us learn more about clubfoot!

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