Pearls To Evaluate A Child With Potentially Abnormal Facies

Carefully review the history, especially:

■ Family history

■ Perinatal history

Note abnormalities on other parts of the physical examination, especially:

■ Development

■ Other dysmorphic somatic features

Perform measurements (and plot percentiles), especially

■ Head circumference

Consider the three mechanisms of facial dysmorphogenesis.

■ Deformations due to intrauterine constraint

■ Disruptions due to amniotic bands or disruption from fetal tissue

■ Malformations due to an intrinsic abnormality in either the face/head or the brain

Examine the parents and siblings.

■ Similarity to a parent may be reassuring (e.g., large head) or may represent a familial disorder.

Try to determine whether the facial features fit a recognizable syndrome, comparing to:

■ References (including measurements) and pictures of syndromes

■ Tables/databases of combinations of features.

A child with abnormal shape or length of palpebral fissures: Upslanting (Down syndrome) Down-slanting (Noonan's syndrome) Short (fetal alcohol effects)

Percussion of the cheek is useful to check for Chvostek'ssign, which is present in some metabolic disturbances and occasionally in normal infants. Percuss at the top of the cheek just below the zygomatic bone in front of the ear, using the tip of your index or middle finger.

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