Appendix P

Appendix P: Dysmorphology Exam

Protocol for Conducting Exam

Data Collection form for Exam

PROTOCOL FOR PHYSICAL AND DYSMORPHOLOGY EXAMINATION

(revised 11-14-05)

Objective

The recommended format is intended to facilitate recording data from anthropometric and dysmorphology examination, and determine if a subject (or cohort control) is likely to have a genetic syndrome. The physical examination will include anthropometrics (height, weight, head circumference) and standardized dysmorphology examination.

Methods

Measures

1. Physical anthropometric measurements according to standards described in training manual.

2. Data will be recorded for physical and dysmorphology examination in the data recording form (see Appendix).

3. Measurement and description of specified features (including face, hands, feet and others) in standardized fashion by use of digital camera and measurement software. Measurements will be recorded in datasheets.

Procedures

Assessment Team

1. Qualified examiner (see below for qualifications) for dysmorphology examination and photography.

2. Pediatric clinician for supervision of physical measurements and recording data of dysmorphology examination

   1. Each center will include an experienced pediatric clinician who will train and supervise the examiner.

   2. Depending on the availability at each site, this clinician might be a Developmental or Behavioral Pediatrician, Child Neurologist, Child Psychiatrist, Pediatric Nurse Practitioner or Pediatric Geneticist.

3. Each site will have access to a Consulting Pediatric Geneticist for assessment and analysis of photographs to determine if a syndrome is likely. Please see Quality Assurance section below.

Photographs

1. Photogrammatic digital measurements:

   1. Use of a digital camera (minimum 2.0 megapixels) and software program for measurement of specified dysmorphic features [web site is http://www.kuleuven.ac.be/bio/sys/carnoy/ ].

   2. The centers will assure that the examiner will be trained in the use of the software program.

2. Photographs of child will include:

   1. Views of face

      1. Profile (both sides against dark background)

      2. Full face portrait

   2. Each hand with fingers spread

   3. Feet (without shoes and socks, placed flat against a dark background)

   4. Ear (length; from photograph – position, rotation morphology)

3. Standards for each photograph will be enumerated in the training manual.

Qualified Examiner:

1. Education: Master’s level (or equivalent degree) candidate preferred, with background in working with pediatric population(s) in a clinical department (e.g., genetics, other pediatric departments) or other research project involving children.

2. Experience:

   1. Previous direct clinical experience in examining children, recording data, under supervision of pediatric clinician.

   2. Completion of written and videotaped training curriculum according to published standards of measurement.

   3. Experience observing in a pediatric clinical genetics clinic (e.g, craniofacial clinic or others), working with geneticist and/or genetics counselor for a minimum of 6 sessions.

Quality Assurance

To maintain quality and consistent data collection each of the CADDRE centers will:

1. Identify a clinician who will supervise and train the examiner(s), establish reliability, and oversee quality of data collection.

2. Identify a consulting Pediatric Geneticist who will be available to assist with training curriculum and evaluate photographs of subjects to confirm clinical impressions as needed.

3. Maintain a library of standard references (see reference list below).

4. Develop a written and videotaped curriculum for standards of physical measurements and data recording. Sample examinations will be videotaped as part of a curriculum for training examiners.

5. Measures of Quality assurance

   1. Within the center – options to be considered will include (one or both of the following)

      1. The clinical team will periodically compare direct clinical measurements by a geneticist or experienced examiner (using sliding anthropometric caliper) with photogrammetric digital measurements. The expectation of agreement (X% of measurement vs. number of trials to establish agreement) will be determined.

      2. Duplicate photographs of the same child will be measured in sequence (by the same examiner) and/or by other examiners in the same program. The expectation of agreement X% of measurement vs. number of trials to establish agreement) will be determined.

   2. Between centers – Interrater reliability measures (between centers) will be completed quarterly, with standards of agreement to be determined.

REFERENCES

Hall JG, Froster-Iskenius UG, Alanson JE. Handbook of Normal Physical Measurements. NY: Oxford University Press; Jones KL. Smith's Recognizable Patterns of Human Malformation 5^th edition. Philadelphia, PA: WB Saunders and Company, 1989.

Jones KL. Smith’s Recognizable Patterns of Human Malformation, 5^th Edition. Phildelphia: W.B. Saunders Company, 1997.

Miles JH, Hillman RE. Value of a clinical morphology examination in autism. American Journal of Medical Genetics 91:245-253 (2000).

Rodier PM, Bryson SE, Welch JP. Minor malformations and physical measurements in autism: data from Nova Scotia. Teratology. 1997 May;55(5):319-25
http://download.interscience.wiley.com/cgi-bin/fulltext?ID=46014&PLACEBO=IE.pdf

Waldrop, M. & Halverson, C. Minor physical anomalies and hyperactive behaviour in young children. In J. Hellmuth (Eds.), Exceptional Infant. Studies in Abnormalities (pp. 343-380). New York: Brunner/Mazel, 1971

Dysmorphology Exam: Data Collection Form

STUDY ID# Date of examination:

G

Form Approved

OMB NO. __________

Exp. Date __________

ender: Male / Female (circle one) Examiner:

Date of Birth: Reviewing Physician:

Chronological Age: Date of Review:

DYSMORPHOLOGY EXAMINATION

I. Growth parameters	Measurement Note Units	Percentile	COMMENTS (From in person exam)	COMMENTS (From photograph review)
Head circumference (cm)				n/a
Height (cm)				n/a
Weight (kg)				n/a
Inner canthal distance (mm)
Palpebral fissure length (mm)

Hand Measurements	Right		Left		COMMENTS (From in person exam)	COMMENTS (From image review)
Using copied image of palmar surface of hand	Size (cm)	%ile	Size (cm)	%ile
Palm + middle finger
Palm
Middle finger
2nd or Index finger
4th or ring finger

II. Minor congenital anomalies		COMMENTS (From in person exam)	COMMENTS (From photograph review)
HEAD
Frontal Bossing	Present Absent
Widow's peak	Present Absent
Low hairline (posterior)	Present – take photo if present Absent
Double/multiple hair whorl(s)	Present Absent
Frontal upsweep	Present Absent
Nasolabial fold (at rest)	Present Absent
Epicanthal folds	Present (full) Pseudoepicanthic folds Absent
Nose	Bulbous tip Upturned Wide nasal bridge Normal
Mouth	Abnormal philtrum Thin lips Tented mouth Wide mouth Normal

	LEFT		RIGHT	COMMENTS (From in person exam)	COMMENTS (From photograph review)
EARS
Ear position (low +/=)	□ Low set □ Normal		□ Low set □ Normal
Ear shape	□ Simple □ Lop shape □ Normal		□ Simple □ Lop shape □ Normal
Ear shape - helix	□ Folded helix □ Normal		□ Folded helix □ Normal
Ear shape - helix	□ Notches in helix □ Normal		□ Notches in helix □ Normal
Ear lobes	□ Adherent □ Normal		□ Adherent □ Normal
HANDS
Nails	□ Abnormal – describe □ Normal		□ Abnormal – describe □ Normal
Index finger > middle finger	□ Present □ Absent		□ Present □ Absent
Single transverse crease	□ Present □ Absent		□ Present □ Absent
Curved 5th finger	□ Present □ Absent		□ Present □ Absent
FEET
Nails	□ Abnormal –describe □ Normal		□ Abnormal – describe □ Normal
2nd & 3rd toes long as great toe	□ Present □ Absent		□ Present □ Absent
3rd toe longer than second	□ Present □ Absent		□ Present □ Absent
Syndactyly of toes	# toes ________ □ Present (full) □ Partial □ Absent (normal)		# toes ________ □ Present (full) □ Partial □ Absent (normal)
Short toes	□ Present □ Absent		□ Present □ Absent
Toe spacing	□ Normal □ Wide spaced		□ Normal □ Wide spaced
Toe walking	□ Present □ Absent		□ Present □ Absent
SKIN
Cutaneous findings suggestive of neurocutaneous disorder - ambient light	Café au lait Ash leaf spot Linear nevus(i) Adenoma sebaceum		Record number, location and measurement(s):
Cutaneous findings with Woods Lamp illumination	Café au lait Ash leaf spot Linear nevus(i) Adenoma sebaceum		Record number, location and measurement(s):

Other Observations:

Photographs taken/ comments (Examiner please check which ones)

• Face (frontal)

• Back of head (for hairline)

• Profile – left

• Profile – right

• Hand (volar or non-palm side) – left

• Hand (volar or non-palm side) – right

• Foot – left

• Foot – right

• Skin; note which parts of body: ____________________________________________

______________________________

Signature of Examiner Signature of Reviewer