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Examination in genetic counselling

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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The proband must have a rigorous physical examination with a careful description of all dysmorphic features outside of that which would be found in a normal population. Measurement of subjectively odd-looking features is vital; normal ranges vary with age and sex and must be placed in the context of centile charts.

Standard measurements include:

  • height
  • arm span
  • weight
  • lower segment length - from floor to upper border of pubis
  • upper segment length - height minus lower segment length
  • sitting height
  • interpupillary distance - hyper/ hypotelorism
  • intercanthal distance - telecanthus can occur when the intercanthal distance is greater than expected while the interpupillary distance is normal; mongoloid slant describes the state of the outer canthi being above the inner canthi
  • head circumference - the maximum occipitofrontal circumference: brachycephaly and dolichocephaly describe the anteroposterior skull length being too short and too long respectively
  • testicular volume
  • ear length

Additionally, the following should be sought:

  • Brushfield spots on the iris, present in 20% of normal babies
  • a single, transverse palmar Simian crease
  • epicanthic skin folds over the inner canthi
  • incurving of the fifth digit, termed clinodactyly
  • fingerprint abnormalities
  • palate and lip abnormalities

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