Concolino et al. Wheeler 2010 et al. Cody et al. This study
Chromosomal imbalance 8q22.2-q24.3 duplication 8q23.3-q24.21 duplication 18q deletion 8q24.12-q24.3 duplication and 18q21.33-q23
Short stature + + 71% +
Facial features
wide ocular distance - + N/A +
Strabismus - N/A 38% +
broad nose N/A N/A N/A +
Long philtrum + - N/A +
Palate abnormality N/A N/A 50% -
Ears abnormality + + 77% -
thin upper lip + N/A N/A +
Micrognathia + + N/A -
Microcephaly N/A N/A N/A -
Neurologic anomalies
Delayed myelination N/A N/A 100% +
Hypotonia - + 93% +
mental retardation + + 100% +
Hearing loss - + 75% +
Seizures - - 20% -
Spasticity N/A N/A N/A -
limb anomalies
cubitus valgus - N/A N/A -
Equinovarus - + N/A -
distal phalanges hypoplasia + - 64% -
Abnormal toes + - 57% +
Birth defects
Congenital cardiac defects + - 54% N/A
Frontal meningocele + - N/A -
Bifid uvula - + N/A -