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Klippel-Trenaunay syndrome associated with polydactyly
Hasan Sunar1, Umit Halici, Enver Duran
1Cardiovascular Surgery Department, Medical Faculty of Trakya University, Edirne, Turkey. hasansunar@trakya.edu.tr
Clinical Anatomy (New York, N.Y.)
|November 1, 2005
Summary
Klippel-Trenaunay syndrome (KTS) is a rare disorder causing vascular birthmarks and limb overgrowth. This case highlights KTS associated with polydactyly, an extra digit, expanding understanding of its varied presentations.
Area of Science:
- Vascular Malformations
- Developmental Biology
- Clinical Genetics
Background:
- Klippel-Trenaunay syndrome (KTS) is characterized by a triad of congenital vascular malformations: port-wine stains, venous varicosities, and bony or soft tissue hypertrophy.
- KTS is a rare congenital disorder with variable clinical manifestations, often affecting a single limb.
- Associated anomalies can include skeletal abnormalities and other developmental issues.
Observation:
- This report details a specific case of Klippel-Trenaunay syndrome.
- The patient presented with the classic features of KTS, including cutaneous vascular nevus, superficial venous varicosities, and limb hypertrophy.
- Notably, the case also exhibited polydactyly, an additional digit, as a co-occurring developmental anomaly.
Findings:
- The presented case confirms KTS can manifest with polydactyly.
- This association underscores the complex and heterogeneous nature of KTS.
- The findings contribute to the spectrum of known KTS phenotypes.
Implications:
- Understanding these associations aids in comprehensive diagnosis and management of KTS.
- Further research into the genetic and developmental pathways underlying KTS and its associated anomalies is warranted.
- This case provides valuable data for clinicians managing patients with KTS and limb abnormalities.