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Weaver's syndrome--primordial excessive growth velocity. A case report
Insights
This report details the seventh and largest case of Weaver syndrome, a rare primordial overgrowth disorder. The black child exhibited significant growth acceleration and distinct physical features, with no biochemical abnormalities found.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Endocrinology
- Rare Diseases
Background:
- Weaver syndrome is a rare genetic disorder characterized by primordial overgrowth.
- It presents with distinctive facial features, advanced bone age, and developmental abnormalities.
Observation:
- A black male infant presented with Weaver syndrome, the seventh recorded case.
- He displayed extreme birth weight (10.2 kg) and rapid postnatal growth (30 kg at 14 months).
- Clinical features included advanced bone age, peculiar facial morphology, loose skin, camptodactyly, foot deformities, and a hoarse voice.
Findings:
- The patient exhibited significant lumbar kyphosis secondary to hypoplastic second and third lumbar vertebrae.
- Comprehensive biochemical and endocrinological evaluations did not reveal any abnormalities.
- This case represents the largest and most comprehensively documented instance of Weaver syndrome to date.
Implications:
- This case expands the phenotypic spectrum of Weaver syndrome, particularly regarding skeletal manifestations like lumbar kyphosis.
- Further research into the genetic underpinnings and long-term management of Weaver syndrome is warranted.
- Detailed case reports are crucial for understanding rare genetic disorders and informing clinical practice.
Abstract:
We report on a black child with the Weaver syndrome of primordial overgrowth, the seventh and largest case thereof yet recorded. His birth weight was 10 200 g and he has continued to grow at an excessive velocity. At the age of 14 months his weight was 30 kg, his height 105 cm and his radiological bone age between 6 and 7 years. Other features which conform to previous reports are a peculiar face with a long philtrum, protuberant lower lip, relative micrognathia, large dysplastic ears, excessive loose skin folds around the scalp, neck and trunk, large hands with camptodactyly, varus deformities of the feet and a hoarse, low-pitched voice. A significant feature in this patient is lumbar kyphosis due to hypoplasia of the second and third lumbar vertebrae. Biochemical and endocrinological tests did not reveal an abnormality.