Smith-Lemli-Opitz syndrome: the changing phenotype with age
De Die-Smulders, C.; Fryns, J.P.
Genetic Counseling 3(2): 77-82
1992
ISSN/ISBN: 1015-8146 PMID: 1642814 Document Number: 389392
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.
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