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 retardation	97	95
Postnatal growth retardation	85	82
Microcephaly	80	84
Structural brain anomalies	60	37
Ptosis	69	70
Cataract	23	22
Anteverted nares	90	78
Cleft palate^1-150	51	47
Congenital heart defect	50	54
Abnormal lung lobation	40	45
Pyloric stenosis	15	14
Colonic aganglionosis	12	16
Renal anomalies	40	43
Genital anomalies	74	65
2/3 toe syndactyly	85	97
Polydactyly^1-151	52	48