Abstract
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.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics*
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Adult
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Age Factors
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Foot Deformities, Congenital / diagnosis
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Foot Deformities, Congenital / genetics*
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Hand Deformities, Congenital / diagnosis
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Hand Deformities, Congenital / genetics*
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Humans
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Hypospadias / genetics
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics*
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Male
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Microcephaly / diagnosis
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Microcephaly / genetics*
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Phenotype*
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Syndrome