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Patient Screening Form

Examiner: DATE: LOCATION:

1.

2.

3.

4.

5.

Family/proband Name
Address/phone no.
Date of birth Sample no. Gender IQ/ Intellectual quotient

Date of examination:

Differential diagnosis

Cytogenetic and Molecular Analyses

Analysis Method
Cytogenetic

Molecular
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Family History and Pedigree

Consanguinity: Yes/No

History of genetic diseases in the family:

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HISTORY

Education: Profession:
Father

Mother

Pregnancy:

Delivery:

Neonatal period:

Psychomotor development:
(incl. Autism spectrum disorder diagnosis if any)

Past illnesses/admissions/operations

Seizure
Otitis Media
Others:

Rehabilitation program (physiotherapy, speech therapy etc.)

Prescribed medicines
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EXAMINATION Date: Age at examination:

General aspects

Measurements (in cm) P/SD (in cm/ml) P/SD

Weight
Ear length AD
Height AS

OFC Testis volume R

L
ICD
Foot length R
OCD L

IPD Hand length R

L

DYSMORPHOLOGY EXAMINATION

Head and face Philtrum

Normocephaly/ microcephaly/ macrocephaly
Long face Lips, mouth and oral region
Prominent forehead Upper vermilion: thin / thick / everted / tented
Prominent chin (mandible) Lower vermilion: thin / thick / everted / tented
Others Hypotonia mouth
High arched palate
Eyes and periorbital region
Strabismus Hands and feet
Nystagmus Simean creases
Others Hyperextension of metacarpophalangeal joints
Flat foot
Ears
Long ears Skeletal and joint features
Protruding ears Pectus excavatum
Others Scoliosis
Joint laxity
Nose Others

Epilepsy/seizure Macroorchidism ( ..... ml/ ..... ml)

Behavioral phenotype
Hyperactivity Hand-biting
Short attention span Poor eye contact
Tactile defensiveness Perseverative speech
Hand-flapping