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[Weaver's syndrome. Apropos of a new case]
M Trabelsi1, M Ben Hariz, K Monastiri
1Service de Pédiatrie, Hôpital d'Enfants, Tunis-Jebbari, Tunisie.
Insights
This report details a rare Weaver syndrome case in an infant, highlighting unusual respiratory issues and congestive cardiomyopathy. The findings expand understanding of this genetic disorder and its differential diagnosis.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Weaver syndrome is a rare genetic disorder characterized by accelerated growth, skeletal maturation, and distinctive facial features.
- Differential diagnosis is crucial, particularly distinguishing it from Marshall-Smith syndrome, which shares some features but includes growth deficiency and intellectual disability.
Observation:
- A male infant presented with Weaver syndrome, exhibiting typical features.
- This case was unusual due to the presence of significant respiratory disorders, rarely associated with Weaver syndrome.
- Congestive cardiomyopathy and major macrocrania were also observed, features not previously described in Weaver syndrome.
Findings:
- The infant's presentation included accelerated growth, skeletal maturation, craniofacial dysmorphism, and widened distal femoral metaphyses.
- The co-occurrence of respiratory disorders and congestive cardiomyopathy in this Weaver syndrome case is noteworthy.
- Major macrocrania was another distinguishing feature of this patient.
Implications:
- This case expands the known clinical spectrum of Weaver syndrome.
- It underscores the importance of considering Weaver syndrome in infants with complex respiratory and cardiac issues.
- Further research may elucidate the genetic and molecular basis for these atypical manifestations.
Abstract:
We report a new case of Weaver syndrome in a male infant. This clinical entity is rare and was first described in 1974. Patients exhibit accelerated growth and skeletal maturation, craniofacial dysmorphism, and widening of the distal femoral metaphyses. Differential diagnosis should mainly out-rule Marshall-Smith syndrome that includes facial dysmorphism, accelerated skeletal maturation, growth deficiency, and mental retardation. Our case is unusual in that respiratory disorders, a feature often seen in Marshall-Smith syndrome but occurring rarely in Weaver syndrome, were present, as well as congestive cardiomyopathy that has apparently never been described in this syndrome, and major macrocrania.