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RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly
G de Jong1, P A Kirby, L M Muller
1Department of Genetics, University of Stellenbosch Medical School, Tygerberg, South Africa. GdJ@maties.sun.ac.za
American Journal of Medical Genetics
|February 25, 1998
Summary
Prenatal ultrasound revealed key indicators of Smith-Lemli-Opitz syndrome, including growth restriction and limb abnormalities. This case highlights ectrodactyly as an unusual antenatal finding in RSH syndrome.
Area of Science:
- Medical genetics
- Prenatal diagnostics
- Developmental biology
Background:
- Smith-Lemli-Opitz syndrome (RSH syndrome) is a rare autosomal recessive disorder.
- It results from a defect in cholesterol biosynthesis.
- Antenatal diagnosis can be challenging.
Observation:
- A fetus presented with significant intrauterine growth retardation.
- Oligohydramnios and mesomelic limb shortness were noted.
- Cardiac, renal, and hand anomalies were observed.
Findings:
- Postnatal diagnosis confirmed RSH syndrome.
- Ectrodactyly of both hands was an unusual antenatal ultrasound finding.
- The combination of findings aids in early identification.
Implications:
- Early antenatal detection of RSH syndrome can facilitate timely genetic counseling and management.
- Understanding ultrasound markers improves diagnostic accuracy for rare genetic disorders.
- This case expands the spectrum of recognized antenatal manifestations of RSH syndrome.