Article
Smith-Lemli-Opitz syndrome: the changing phenotype with age.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1992
de Die-Smulders C, Fryns J P
Abstract excerpt
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.
Topics
- Abnormalities, Multiple
- Adult
- Age Factors
- Foot Deformities, Congenital
- Hand Deformities, Congenital
- Humans
- Hypospadias
- Intellectual Disability
- Male
- Microcephaly
- Phenotype
- Syndrome