Table 1

Comparison of the present patient to those previously reported

Clinical symptoms Illum et al19 Schrander-Stumpel et al20 Di Rocco et al21 Zampino et al22 Present patient
Polyhydramnios2/33/3
Postnatal growth retardation1/12/3Died 6 mth++
Hypotonia3/33/3++
Distal contractures3/33/3+++
Whistling face3/33/3+++
High palate1/3+++
Seizures2/33/3+Single
Severe mental retardation1/13/3+++
Early death3/31/3At 6 mthAt 5 mth
Neuroimaging abnormalities2/3++