Table 1

Findings in 167 clinically diagnosed cases of Smith-Lemli-Opitz syndrome compared with 164 biochemically confirmed cases

Finding Clinically diagnosed (%) Biochemically confirmed
Mental retardation9795
Postnatal growth retardation8582
Structural brain anomalies6037
Anteverted nares9078
Cleft palate1-150 5147
Congenital heart defect5054
Abnormal lung lobation4045
Pyloric stenosis1514
Colonic aganglionosis1216
Renal anomalies4043
Genital anomalies7465
2/3 toe syndactyly8597
Polydactyly1-151 5248
  • 1-150 Includes cleft soft palate, submucous cleft, and cleft uvula.

  • 1-151 Includes postaxial polydactyly of hand(s)/foot.