Table 1

Summary of the main facial and limb morphological features from the present cohort

Main facial and limb featuresPresentPercentage (%)
Midface hypoplasia42/4593
Microcephaly (OFC <−2 SDS)4/538
Macrocephaly (OFC >+2 SDS)9/5317
Hair
  Sparse anteriorly29/4269
  Thick and dense39/4391
Eyes
  Deep set eyes25/4358
  Strabismus41/5476
  Sparse eyebrows23/4354
  Synophris11/4326
  Epicanthus18/4441
  Ptosis13/4330
  Hypertelorism20/4445
Mouth and teeth
  Open mouth appearance44/4598
  Drooling40/5080
  Small mouth32/4670
  Thick lower lip36/4678
  Prominent central incisors16/3250
  Teeth anomalies32/3494
  Persistence of deciduous teeth23/2688
Nose
  Anteverted nostrils23/4452
  Prominent nasal tip29/4367
  Prominent nasal bridge32/4276
  Narrow nasal bridge28/4464
Ears
  Large prominent ears39/4685
Limbs
  Small hands and feet21/3462
  Tapered fingers36/3992
  Vasomotor troubles15/3148
  Livedo of the limbs34/3987
  Valgus flat feet26/3574
  • OFC, occipitofrontal circumference; SDS,  SD  score.