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

3 comments on “Examining a Child with Dysmorphic Features
  1. nice website for teaching

  2. marvelous for clinical mrcpch passing

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