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Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features
L I Al-Gazali1, A Ravenscroft, A Feng
1Paediatrics Department, Faculty of Medicine and Health Sciences, UAE University, PO Box 17666, Al Ain, United Arab Emirates. algazali@hotmail.com
Insights
Stüve-Wiedemann syndrome survivors can live past infancy, showing improved prognosis after the first year. Affected children exhibit characteristic skeletal and neurological symptoms, including temperature instability and reduced pain sensation.
Area of Science:
- Genetics and rare diseases
- Pediatric skeletal dysplasias
- Neurology and dysautonomia
Background:
- Stüve-Wiedemann syndrome is a rare genetic disorder.
- Historically associated with high infant mortality.
- Limited data on long-term survival and phenotype in survivors.
Observation:
- Report on three children from two Arab families surviving past the first year.
- Phenotype consistent with previously described cases.
- Detailed observation of skeletal and neurological manifestations.
Findings:
- Severe skeletal abnormalities: long bone bowing, joint prominence, spinal deformity.
- Neurological symptoms: temperature instability, excessive sweating, reduced pain sensation, absent corneal reflexes.
- Radiological findings: diaphyseal under-tubulation, metaphyseal changes, femoral head destruction.
Implications:
- Confirms survival is possible with improved prognosis after infancy.
- Highlights a characteristic phenotype in Stüve-Wiedemann syndrome survivors.
- Informs genetic counseling for families with affected children.
Abstract:
We report three children from two inbred Arab families with Stüve-Wiedemann syndrome who have survived the first year of life (ages are 6 years, 2.8 years and 2 years). All exhibited a characteristic phenotype resembling that described by Chen et al.[(2001). Am J Med Genet 101:240-245]. In all three children the skeletal abnormalities progressed to severe bowing of the long bones with prominent joints and severe spinal deformity. Neurological symptoms were present in all of them. These included temperature instability with excessive sweating, reduced pain sensation with repeated injury to the tongue and limbs, absent corneal reflexes and a smooth tongue. Mentality was normal in all of them. Radiological changes included under tubulation of the diaphyses, rarefaction and striation of metaphyses, destruction of the femoral heads and spinal deformity. We confirm that survival in this syndrome is possible and that the prognosis improves after the first year of life. This should be taken into consideration when counselling parents of affected children. This report further supports the existence of a characteristic phenotype in Stüve-Wiedemann syndrome survivors which include, in addition to the skeletal abnormalities and distinctive radiological features, neurological symptoms reminiscent of dysautonomia.
