SEED - Clinic Visit- Case Child

The Study to Explore Early Development (SEED)

Appendix_P Study Start Dys Exam form

SEED - Clinic Visit- Case Child

OMB: 0920-0741

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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


  • Normal

  • Abnormal

  • Brachycephaly

  • Dolichocephaly/scaphocephaly

  • Macrocephaly

  • Microcephaly

  • Plagiocephaly/asymmetrical skull

  • Other - describe in comments


Photo #­­­_________

unreliable – __________








FOREHEAD

  • Normal

  • Abnormal

  • Prominent forehead/frontal bossing

  • Wide forehead

  • Narrow forehead/temporal narrowing

  • Other - describe in comments


Photo #­­­_________

unreliable – __________







HAIR

  • Normal

  • Abnormal

  • High frontal hairline

  • Low frontal hairline

  • Widow's peak

  • Frontal upsweep

  • Double/multiple hair whorl(s)

  • Low hairline (posterior)

  • Hirsutism

  • Other - describe in comments


Photo #­­­_________

unreliable – __________









FACE

  • Normal

  • Abnormal

  • Asymmetric face

  • Coarse facial features

  • Flat face

  • Mid-face hypoplasia

  • Small face

  • Thin/long face

  • Triangular face

  • Absent nasolabial fold (at rest)

  • Pointed chin

  • Prominent mandible/prognathism

  • Small mandible/micrognathia

  • Other - describe in comments


Photo #­­­_________

unreliable – __________










EYES

  • Normal

  • Abnormal

  • Nodular eyelids

  • Ptosis of eyelids

  • Epicanthal folds (full)

  • Palpebral fissure slant (up)

  • Palpebral fissure slant (down)

  • Short palpebral fissures (measurement)

  • Wide/long palpebral fissures (measurement)

  • Periorbital skin, general abnormalities

  • Fullness of peri-orbital region

  • Deep-set eyes

  • Hypertelorism (measurement)

  • Hypotelorism (measurement)

  • Prominent eyes/proptosis

  • Other - describe in comments


Photo #­­­_________

unreliable – __________




















EYEBROWS

  • Normal

  • Abnormal

  • Sparse/decreased eyebrows

  • Medial eyebrow flare

  • Synophrys

  • Thick eyebrows

  • Other - describe in comments


Photo #­­­_________

unreliable – __________







NOSE SIZE

  • Normal

  • Abnormal

  • Large/long nose (by impression)

  • Small/short nose (by impression)

  • Other - describe in comments


Photo #­­­_________

unreliable – __________





NOSE

STRUCTURE

  • Normal

  • Abnormal

  • Depressed/flat nasal bridge

  • High/prominent nasal bridge

  • Short nasal septum

  • Broad nasal tip

  • Bulbous tip

  • Flat nose

  • Pinched nose

  • Upturned

  • Broad base to nose

  • Wide nasal bridge

  • Other - describe in comments


Photo #­­­_________

unreliable – __________













MOUTH & LIPS

  • Normal

  • Abnormal

  • Long philtrum (measurement)

  • Short philtrum (measurement)

  • Simple/absent philtrum (by impression)

  • Wide philtrum (by impression)

  • Macrostomia

  • Microstomia

  • Cupid bow shape of mouth

  • Open mouth appearance

  • Thin lips

  • Thin upper lip

  • Cleft upper lip (non-midline)

  • Tented mouth

  • Wide mouth

  • Down-turned corners of the mouth

  • Prominent/everted lower lip

  • Other - describe in comments


Photo #­­­_________

unreliable – __________



















TEETH

  • Normal

  • Abnormal

  • Enamel abnormalities

  • Irregular or crowded teeth

  • Abnormally shaped teeth

  • Small teeth

  • Wide-spaced teeth

  • Other - describe in comments


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

  • Normal

  • Abnormal

  • Cutaneous findings using

ambient light

  • Cutaneous findings with

Woods Lamp illumination

  • Other - describe in comments

Record number, location, color, raised/flat and measurement(s):

Record number, location, color, raised/flat and measurement(s):


Photo #­­­_________

unreliable – __________



GAIT


  • Normal

  • Abnormal

  • Toe walking (observed only)

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


  • Head – Anterior (face) – With Reference & for hairline

  • Head – Anterior (face) – smiling for teeth

  • Head – Posterior – For Hairline

  • Head – Left Lateral – Profile (include entire head in shot)

  • Head/Ear – Left Lateral – With Reference

  • Head – Right Lateral – Profile (include entire head in shot)

  • Head/Ear – Right Lateral – With Reference

  • Head – ¾ view – No reference needed

  • Head – hair whorls – no reference


  • Hand – Left Dorsal –Non-palm Side (single hand in photo)

  • Hand – Right Dorsal – Non-palm Side (single hand in photo)

  • Hand (scan) – Right Ventral – Palm Side

  • Hand (scan) – Left Ventral – Palm Side


  • Foot – Left Dorsal – Top of Foot (single foot in photo)

  • Foot – Right Dorsal – Top of Foot (single foot in photo)


  • Additional photos - Note number of photos, which abnormality, and part of body:

____________________________________________________________________________________________________________



1) Was [CHILD] born with any problems in the structure of his/her body or organs (also know as birth defects)?

  • No

  • Yes - describe ____________________________________



2) Has [CHILD] had any corrective surgeries? This includes surgeries to repair findings in the abdominal or genital region (such as hernias)?

  • No

  • Yes - describe ____________________________________



3) Does [CHILD] have a clinical diagnosis of a syndrome?

  • No

  • Possible Dx*:___________________________

  • Yes Dx*: ______________________________



4) Has [CHILD] had a genetics evaluation, blood tests, or been seen by a genetic counselor?

  • No

  • Yes* Reason/Results:___________________________

(*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 10 of 10

File Typeapplication/msword
File TitlePHYSICAL EXAMINATION
AuthorTHE CHILDREN'S HOSPITAL OF PHILADELPHIA
Last Modified ByThelma Elaine Sims
File Modified2010-04-15
File Created2010-04-15

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