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Smith-Lemli-Opitz syndrome: the changing phenotype with age
Genetic Counseling (Geneva, Switzerland)
|January 1, 1992
Summary
Smith-Lemli-Opitz syndrome (SLOS) presents unique diagnostic challenges in adulthood. Follow-up data reveals that typical SLOS traits diminish with age, complicating adult diagnosis.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder.
- It is caused by mutations in the DHCR7 gene, leading to impaired cholesterol biosynthesis.
- SLOS typically presents with characteristic physical and intellectual disabilities.
Purpose of the Study:
- To present follow-up data on two brothers diagnosed with Smith-Lemli-Opitz syndrome.
- To investigate the phenotypic changes associated with aging in individuals with SLOS.
- To highlight the diagnostic difficulties of SLOS in adult patients.
Main Methods:
- Longitudinal follow-up of two affected individuals.
- Clinical observation and assessment of phenotypic traits.
- Review of diagnostic criteria and their applicability in aging patients.
Main Results:
- Striking changes in physical and clinical presentation were observed with aging.
- Fewer typical SLOS traits were present in adulthood.
- Diagnosis of SLOS in adulthood proved extremely difficult based on the diminished trait expression.
Conclusions:
- The phenotypic expression of Smith-Lemli-Opitz syndrome significantly alters with age.
- Traditional diagnostic markers for SLOS may not be reliable in adult patients.
- Diagnostic approaches for SLOS require adaptation for adult cases to ensure accurate identification.