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[Weaver syndrome. 1st case reported in Venezuela]
O Sánchez1, S Boufajreldin, C Oranges
1Centro de Microscopía Electrónica, Unidad de Genética, Universidad de Oriente, Estado Bolívar, Venezuela.
Insights
This report details a rare case of Weaver syndrome in a young female, highlighting key diagnostic features and potential genetic underpinnings. The study contributes to understanding overgrowth disorders and their genetic basis.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- Weaver syndrome is a rare genetic disorder characterized by overgrowth.
- Accurate diagnosis and understanding the genetic basis are crucial for patient management.
Observation:
- A 2-year-9-month-old female presented with persistent pre- and post-natal overgrowth, advanced bone age, and distinctive facial features.
- Key findings included macrocephaly, ocular hypertelorism, micrognathia, large ears, tibial vara, and developmental delay.
- Neurological signs such as cortical atrophy and ventricular dilation were also noted.
Findings:
- The patient's presentation aligns with established criteria for Weaver syndrome.
- Differential diagnosis with other overgrowth syndromes was considered.
- The case suggests potential roles for uniparental disomy and genetic imprinting in Weaver syndrome etiology.
Implications:
- This case expands the clinical description of Weaver syndrome.
- It underscores the importance of considering genetic imprinting and uniparental disomy in diagnosing overgrowth disorders.
- This is the first reported case of Weaver syndrome in the Venezuelan literature, aiding regional medical awareness.
Abstract:
A 2 years and 9 months old female patient, with the diagnosis of Weaver syndrome is reported. The proband presents persistent pre and post-natal overgrowth, asynchronic advanced bone age, particular facies, (macrocephaly, ocular hypertelorism, micrognathia, large ears), bilateral widening of the distal femoral metaphysis, bilateral tibia vara, prominent fetal fingerpads, clinodactyly, development delay, low pitched and hoarse cry, nonspecific cortical atrophy, dilation of the ventricles and vermix hypoplasia. The differential diagnosis with other overgrowth syndromes is discussed. The possibility of uniparental disomy and genetic imprinting as the basic genetic defect in the Weaver syndrome is suggested. The patient reported here appears to be the first case in the Venezuelan literature.