Table 1.

Reported ultrasound findings in conceptuses with Smith–Lemli–Opitz syndrome

General     in utero demise     Intrauterine growth retardation

Nervous system     Ventricular dilatation     Abnormal corpus callosum or cerebellum     Dandy–Walker malformation/variant     Holoprosencephaly

Facial     Cleft lip/palate     Bifid uvula     Short nose with anteverted nares

Cardiac     Septal or major vessel defects     Complex malformations

Genital     Ambiguous genitalia

Skeletal     Micromelia     Postaxial polydactyly     2–3 toe syndactyly     Microcephaly

Abdominal     Renal hypoplasia or agenesis     Hydronephrosis

Based on Quelin et al., 2012. Normal ultrasound examination is also reported.