[Smith-Lemli-Opitz syndrome. Case report and differential diagnosis].
D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D017880:Limb Deformities, Congenital; D008297:Male; D008831:Microcephaly; D009666:Nose / Q000002:abnormalities; D013576:Syndactyly; D013577:Syndrome; D014314:Trisomy
Sindrome di Smith-Lemli-Opitz. Descrizione di un caso e diagnosi differenziale.