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Weaver-Smith syndrome. A case study with long-term follow-up
Insights
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.
Abstract:
We studied a 6-year-old-boy who was followed up from infancy and who had Weaver-Smith syndrome (WSS), a syndrome characterized by excessive growth, dysmorphic facies, psychomotor retardation, and specific radiologic features. The child's height and bone age were far greater than his chronological age and he demonstrated hypothyroidism at the age of 6 years, but had no endocrinologic abnormalities when he was examined at 11 months of age and again at 4 years of age. We compared the clinical and laboratory features of this child with all other reported cases of WSS.