A girl with the Weaver syndrome

Area of Science:

• Genetics
• Pediatrics
• Developmental Biology

Background:

• Weaver syndrome is a rare genetic overgrowth disorder.
• Characterized by distinctive facial features, advanced bone age, and developmental delays.

Observation:

• A female patient presented with typical Weaver syndrome features including overgrowth and advanced bone age.
• Facial characteristics included a broad forehead, hypertelorism, long philtrum, micrognathia, and large ears.
• Additional findings: developmental delay, hypertonia, hoarse voice, prominent finger pads, narrow nails, small chest, dislocated ulna, and vertebral abnormalities.

Findings:

• The patient exhibited classic manifestations of Weaver syndrome.
• The case confirms the wide spectrum of clinical presentations associated with this genetic condition.
• Detailed documentation of physical and developmental anomalies in Weaver syndrome.

Implications:

• Contributes to the understanding of Weaver syndrome's phenotypic variability.
• Aids in the diagnosis and management of patients with Weaver syndrome.
• Highlights the importance of comprehensive evaluation for genetic overgrowth disorders.