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Weaver-Smith syndrome. A case study with long-term follow-up
American Journal of Diseases of Children (1960)
|December 1, 1984
Summary
This study details a boy with Weaver-Smith syndrome (WSS), highlighting his excessive growth and later development of hypothyroidism. The findings contribute to understanding WSS progression and associated endocrine changes.
Area of Science:
- Pediatric Endocrinology
- Genetics and Rare Diseases
Background:
- Weaver-Smith syndrome (WSS) is a rare genetic disorder characterized by overgrowth, distinctive facial features, developmental delays, and skeletal abnormalities.
- Early identification and comprehensive management are crucial for individuals with WSS.
Observation:
- A 6-year-old boy with WSS presented with height and bone age significantly advanced compared to his chronological age.
- Hypothyroidism was diagnosed at age 6, despite normal endocrine evaluations at 11 months and 4 years of age.
Findings:
- This case highlights the potential for developing endocrine abnormalities, specifically hypothyroidism, later in childhood in individuals with WSS.
- Comparison with other WSS cases provides further clinical and laboratory data for this rare syndrome.
Implications:
- The findings suggest the importance of ongoing endocrine monitoring in children diagnosed with Weaver-Smith syndrome.
- This case contributes to the broader understanding of the phenotypic variability and long-term health considerations in WSS.