Smith-Lemli-Opitz syndrome: the changing phenotype with age.
In this report we present follow up data of two brothers with Smith-Lemli-Opitz syndrome. The changes with ageing are striking and few of the typical SLO traits are still present, which makes it extremely difficult to make the diagnosis Smith-Lemli-Opitz syndrome at adult age.
de Die-Smulders
C
C
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D000367:Age Factors; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome