STUDY ID#___________________________
CLASSIFYING CLINICIAN:___________________________
Gender (circle one): Male / Female Date of examination:
Mom & Dad Race/Ethnicity: Examiner:
Date of Birth: Reviewing Physician:
Chronological Age: Date of Review:
Scale QC - Use object of known weight Record weight here (including units): |
Initial Scale reading with object
|
COMMENTS (Type of object used) |
|
|
|
PARENT MEASUREMENTS (Do not count as a physical anomaly for dysmorphology classification)
Biological MOTHER |
Measurement Note Units |
Percentile |
Exam Comments |
Height (can be reported) |
|
n/a |
unreliable – reason_____ |
Head circumference (cm) |
|
|
unreliable – reason_____ |
Biological FATHER |
Measurement Note Units |
Percentile |
Exam Comments |
Height (can be reported) |
|
n/a |
unreliable – reason_____ |
Head circumference (cm) |
|
|
unreliable – reason_____ |
DYSMORPHOLOGY EXAMINATION
I. Growth Parameters |
Measurement |
Percentile |
Exam Comments |
|
|||||||||||||||||||
Height (cm) |
|
|
unreliable – reason_____ |
|
|||||||||||||||||||
Weight (kg) |
|
|
unreliable – reason_____ |
|
|||||||||||||||||||
Head Circumference (cm) |
|
|
unreliable – reason_____ |
|
|||||||||||||||||||
BMI and Percentile |
|
|
unreliable – reason_____ |
|
|||||||||||||||||||
|
|
|
|
|
|||||||||||||||||||
EYES |
Measurement |
Percentile |
Photo Comments |
||||||||||||||||||||
Interpupillary distance (mm) |
|
(not from ABASE – need to get %ile from plotting on paper)
|
Internal measurement (mm) ___________
Photo #____________________________________________ unreliable – reason_________________
|
||||||||||||||||||||
Inner canthal distance (mm) |
|
Provided by ABASE
|
Internal measurement (mm) ___________
Photo #___________________________________________ unreliable – reason_________________
|
||||||||||||||||||||
|
Right PFL |
Left PFL |
|||||||||||||||||||||
|
Measurement |
Photo Comments |
Measurement |
Photo Comments |
|||||||||||||||||||
Palpebral fissure length (mm) |
|
Internal measurement (mm) _________
Photo #___________________________ unreliable – reason___________
|
|
Internal measurement (mm) ___________
Photo #______________________________ unreliable – reason_________________
|
|||||||||||||||||||
MOUTH |
Measurement |
Photo Comments |
|||||||||||||||||||||
Philtrum (mm) |
|
Internal measurement (mm) ___________ Photo #____________________________ unreliable – reason_________________
|
|||||||||||||||||||||
EARS |
Right Ear |
Left Ear |
|
||||||||||||||||||||
Length (mm) |
Measure |
Percentile |
Photo Comments |
Measure |
Percentile |
Photo Comments |
|
||||||||||||||||
|
|
Internal measurement (mm) ______
Photo #______________________ unreliable – reason___________ |
|
|
Internal measurement (mm) ___________
Photo #____________________________ unreliable – reason_________________
|
|
HANDS From Scanner |
Right Hand |
Left Hand |
|
||||||||||||||
Measurement |
Scan Comments |
Measurement |
Scan Comments |
|
|||||||||||||
2nd or Index finger (mm) |
|
Internal measurement (mm) _________
Scan #_________
unreliable – reason_______ |
|
Internal measurement (mm) _________
Scan #_________
unreliable – reason__________ |
|
||||||||||||
4th or ring finger (mm) |
|
unreliable – __________
|
|
unreliable – __________
|
|
||||||||||||
Digit ratio: 2nd/4th |
|
/ / / / / / / / / / / |
|
/ / / / / / / / / / |
|
||||||||||||
|
Measurement |
Percentile |
Measurement |
Percentile |
|
||||||||||||
Middle finger (mm) |
|
unreliable – __________
|
|
unreliable – __________
|
|
||||||||||||
Palm (mm) |
|
unreliable – __________
|
|
unreliable – __________
|
|
||||||||||||
Total hand length (Middle finger + Palm) (mm) |
|
unreliable – __________
|
|
unreliable – __________
|
|
||||||||||||
|
|
||||||||||||||||
FEET From Paper Markings |
Right Foot |
Left Foot |
|
||||||||||||||
Measurement |
Percentile |
Measurement |
Percentile |
|
|||||||||||||
Foot Length (cm) |
|
unreliable – _________ |
|
unreliable – __________ |
|
||||||||||||
|
|
||||||||||||||||
II. Minor congenital anomalies (take additional photos if abnormal) |
Exam Comments |
Photo Comments |
|
||||||||||||||
HEAD
|
|
|
Photo #_________ unreliable – __________
|
|
|||||||||||||
FOREHEAD |
|
|
Photo #_________ unreliable – __________
|
|
|||||||||||||
HAIR |
|
|
Photo #_________ unreliable – __________
|
|
|||||||||||||
FACE |
|
|
Photo #_________ unreliable – __________
|
|
|||||||||||||
EYES |
|
|
Photo #_________ unreliable – __________
|
|
|||||||||||||
EYEBROWS |
|
|
Photo #_________ unreliable – __________
|
|
|||||||||||||
NOSE SIZE |
|
|
Photo #_________ unreliable – __________
|
|
|||||||||||||
NOSE STRUCTURE |
|
|
Photo #_________ unreliable – __________
|
|
|||||||||||||
MOUTH & LIPS |
|
|
Photo #_________ unreliable – __________
|
|
|||||||||||||
TEETH |
|
|
Photo #_________ unreliable – __________
|
|
|||||||||||||
|
R |
L |
|
||||||||||||||
EARS
Position, rotation, shape, & lobes |
□ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □
□ □ |
□ □ □ □ □ □□ □□□□ □ □ □ □ □ □
□ □ |
Normal Abnormal Asymmetric ears Dysplastic ears Size – Large (by measurement) Size – Small (by measurement) Position - Low set Rotation - Posteriorly Shape - Simple Shape – Lop Shape – Cupped Shape – Protuberant ears Helix - Folded Helix - Notches in helix Helix – Prominent helix Helix - Crumpled helix Helix/Lobe -Auricular pits/fistulas Lobe – Adherent/attached Other - describe in comments |
|
Photos #_________ unreliable – __________
|
|
|||||||||||
|
R |
L |
|
||||||||||||||
HANDS
Palm and fingers |
□ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □ □ |
□□□□ □ □ □ □ □□ □ □□ □ □□□ |
Normal Abnormal Large hands (measurement) Small hands (measurement) Camptodactyly Clinodactyly Curved 5th finger Tapering fingers Short/hypoplastic metacarpals Short phalanges Wide phalanges Long phalanges Broad thumbs Index finger > middle finger Single transverse crease Other – describe in comments |
|
Photos #_________ unreliable – __________
|
|
|||||||||||
NAILS (indicate hands and/or feet) |
□ □ □
□ □
□ □ |
□ □ □
□ □
□□ |
Normal Abnormal Hyperplastic, Includes ridged nails Hyperconvex/clubbed nails Small/hypoplastic/deepset nails Short nails Other – describe in comments
|
|
Photos #_________ unreliable – __________
|
|
|||||||||||
|
R |
L |
|
Exam Comments |
Photo Comments |
|
|||||||||||
FEET
Structure and toes |
□ □ □ □ □ □ □ □ □ □ □
□ □ □ □ □ □ □ □ |
□ □ □ □□ □ □ □ □□ □
□ □□ □ □ □ □□ |
Normal Abnormal Large feet Small feet Wide feet Club foot, varus Hallux valgus 2nd & 3rd toes as long as 1st toe 3rd toe longer than 2nd toe Syndactyly of toes (full) Syndactyly of toes (partial) R - # toes ________ L - # toes ________ Short toes Wide spaced toes Broad toes Over-riding toes (includes clinodactyly) Camptodactyly/hammer toes Toes, other Other - describe in comments |
|
Photos #_________ unreliable – __________
|
|
|||||||||||
SKIN |
ambient light
Woods Lamp illumination
|
Record number, location, color, raised/flat and measurement(s): |
Record number, location, color, raised/flat and measurement(s):
Photo #_________ unreliable – __________
|
|
|||||||||||||
GAIT
|
□ Other - describe in comments |
(Do not count as a physical anomaly for dysmorphology classification) |
|
||||||||||||||
OTHER OBSERVATIONS/COMMENTS:
|
PHOTOGRAPHS |
|
CLINIC INTAKE QUESTIONS: |
Examiner – Take at least one photo of each listed and mark below
____________________________________________________________________________________________________________
|
|
1) Was [CHILD] born with any problems in the structure of his/her body or organs (also know as birth defects)?
2) Has [CHILD] had any corrective surgeries? This includes surgeries to repair findings in the abdominal or genital region (such as hernias)?
3) Does [CHILD] have a clinical diagnosis of a syndrome?
4) Has [CHILD] had a genetics evaluation, blood tests, or been seen by a genetic counselor?
(*IF THEY HAVE NOT DONE SO ALREADY, PLEASE BE SURE TO ASK FOR THE FAMILY TO SIGN A HIPAA MEDICAL RECORD RELEASE FOR THIS PROVIDER.)
|
|
Criteria for Defining Feature as Dysmorphic |
|
Measurements |
Lower limit |
Upper limit |
BMI? Height |
≤ 10th %ile |
≥ 97th %ile |
Weight |
≤ 3rd %ile |
≥ 97th %ile |
Head circumference |
≤ 2nd %ile |
≥ 98th %ile |
Interpupillary distance |
≤ 3rd %ile |
≥ 97th %ile |
Inner canthal distance |
≤ 3rd %ile |
≥ 97th %ile |
Palpebral fissure length |
≤ 5th %ile |
≥ 95th %ile |
Philtrum length |
≤ 3rd %ile |
≥ 97th %ile |
Ear length |
≤ 3rd %ile |
≥ 97th %ile |
Middle finger length |
≤ 3rd %ile |
≥ 97th %ile |
Palm length |
≤ 3rd %ile |
≥ 97th %ile |
Total hand length |
≤ 3rd %ile |
≥ 97th %ile |
Foot length |
≤ 3rd %ile |
≥ 97th %ile |
Signature of Examiner
Signature of Classifying Clinician (genetics)
Signature of QC Supervisor (if applicable)
Skin Findings Classification System
Hypopigmented macules |
Count as dysmorphic if: --the number is > to 5 OR --the diameter of any one macule is >50 mm |
Cafe-au-lait spots |
Count as dysmorphic if: --the number is >= to 6 or --the diameter of any one spot is >50 mm |
GENETICISTS – please fill out pages 8-9
1) CLASSIFYING CLINICIAN IMPRESSION – circle one (This is based on clinician’s Gestalt and is not based on any Miles classification system). Any suspected syndrome features should be listed under “List Features.”
DYSMORPHIC NONDYSMORPHIC
__________________________________________________________________________________________________________________________________________________________________________
2) Known Genetic Syndrome or Chromosome Abnormality?
NO YES If Yes, Specify:______________________________________
3) Major malformation present?
If Yes, check additional information box and list features under OLD Miles list.
NO YES □ Single major malformation
□ Multiple major malformations (>1)
4) OLD Miles ALGORITHM RESULTS
List Features:
Final Impression by GENETICIST (Check one box below) |
CLASSIFICATION |
□ Normal – nondysmorphic (3 or less features) |
□ Equivocal (4-5 features) |
□ Abnormal – dysmorphic (6 or more features) |
5) NEW Miles ALGORITHM RESULTS
Your decision flow must start at "ears" (pink box) and then proceed through a path until you reach "dysmorphic" or "non-dysmorphic." Circle your answers for each box that you choose. Your decision flow cannot start at "nose size," "nails" or "hair growth pattern." Your decision flow must follow until you reach "dysmorphic" or "non-dysmorphic" on the chart.
Appendix P
Version 1-13-09
SNC Page
File Type | application/msword |
File Title | PHYSICAL EXAMINATION |
Author | THE CHILDREN'S HOSPITAL OF PHILADELPHIA |
Last Modified By | Thelma Elaine Sims |
File Modified | 2010-04-15 |
File Created | 2010-04-15 |