Examining a Child with Dysmorphic Features

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Revision notes on examination of a child with Dysmorphism

Inspection

Head Size, shape, sutures

Eyes

• Hypo/hypertelorism = Outer & Inner canthus and inter pupillary distance
• Epicanthic folds
• Palpebral fissures – slant
• Size
• Coloboma
• Pigment/ markings / clouding

Ears

• Shape/ appendages
• Low set – horizontal line from inner canthi – ears = % above line

Face

Shape/Symmetry

• Jaw
• Palate
• Teeth
• Hairline

Hands

Syndactyly = fused
Clinodactyly
Polydactyly = pre-axial = thumb side
Creases
Arachnodactyly
Arms

• Thumbs touching shoulders
• Carrying angle
• Span
• Legs and arms together – size discrepancy

Skin
Back

• Scoliosis
• lordosis

Genitalia

Relevant system examination

Plot height weight etc

Adapted by Dr Abigail Whitehouse from original revision notes prepared by
Dr Emma Thorpe – locum consultant Peadiatric ED St Georges Hospital
Dr Rishi Pabary – Clinical Research Fellow/Paediatric Respiratory SpR, Royal Brompton Hospital