Table 5

Clinical characteristics of patients

Molecular finding22q11.2Pseudo-autosomal X duplicationIGF1R
SRS diagnosisSRS-likeSRS-likeSRS
Growth characteristics
 Relative macrocephaly+++
Typical face (at least 3/4 characteristics)223
 Triangular face+++
 Frontal bossing++
 Craniofacial disproportion?
Relative criteria (at least 1)453
 Clinodactyly or brachydactyly of 5th finger+++
 Low-set/malformed earsright+
 2nd or 3rd toe syndactyly+
 Feeding problems++
 Speech delay+
 Excessive sweating
Atypical characteristics
 Motor developmental delay++
 Developmental delay+
 Weight gain+
 Sandal crease between 2nd and 3rd toes+
 Wide crease between 1st and 2nd toes+
 Congenital hip dysplasia+
 Hypoplastic alae nasi+
 Ventricular septal defect+
  • PNGR, postnatal growth retardation; SGA, small for gestational age; SRS, Silver–Russell syndrome.