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[The De Barsy syndrome]
J Hoekx1, J Smeitink, H Brunner
1Afd. Kindergeneeskunde, Academisch Ziekenhuis Nijmegen.
Tijdschrift Voor Kindergeneeskunde
|April 1, 1989
Insights
De Barsy syndrome is a rare genetic disorder characterized by premature aging, skin laxity, and developmental delays. This case report details a male infant
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- De Barsy syndrome is a rare genetic disorder.
- It is characterized by a progeroid appearance, cutis laxa, and developmental issues.
Observation:
- This report details a male infant with De Barsy syndrome.
- Clinical symptoms were compared with previously reported cases.
Findings:
- The aetiology of De Barsy syndrome remains unclear.
- Autosomal recessive inheritance is suspected.
Implications:
- Further research is needed to understand the aetiology and inheritance patterns.
- Improved diagnosis and management strategies for De Barsy syndrome are essential.
Abstract:
De Barsy syndrome is defined by the combination of a progeroid aspect, cutis laxa, cornea clouding, growth retardation, mental retardation and athetoid movements. The clinical symptoms of a male infant are described and compared with all other cases reported in literature. The aetiology of this syndrome is unclear; inheritance is probably autosomal recessive.