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Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome
The Journal of Urology
|April 1, 1987
Summary
Smith-Lemli-Opitz syndrome causes intellectual disability and physical abnormalities. This review highlights significant kidney and genital issues in affected children, often overlooked in urology.
Area of Science:
- Medical Genetics
- Pediatric Urology
- Developmental Biology
Background:
- Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder.
- It is characterized by intellectual disability, dysmorphism, and organ malformations.
- Previous literature has not focused on the urological manifestations of SLOS.
Observation:
- This study reviews institutional experience with SLOS.
- An illustrative case is presented.
- Focus is placed on renal and genital abnormalities.
Findings:
- Upper urinary tract abnormalities were observed in 57% of evaluated children.
- Genital abnormalities were present in 71% of evaluated children.
- These urological findings are significant in SLOS patients.
Implications:
- Highlights the importance of urological evaluation in SLOS.
- Suggests urologists should be aware of these common abnormalities.
- Aids in comprehensive management of Smith-Lemli-Opitz syndrome.