[A typical case of Smith-Lemli-Opitz syndrome: nosologic problems and overlapping syndromes].
A male infant, born to consanguineous parents, with typical clinical findings of the Smith-Lemli-Opitz syndrome (SLOS) is reported. Nosologic controversies and overlapping syndromes with SLOS are discussed.
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Centro di genetica umana degli Ospedali Galliera di Genova.
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome
Su un caso tipico di sindrome di Smith-Lemli-Opitz: problemi nosologici e sindromi sovrapponibili.