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- Title
KLIPPEL-TRENAUNAY SYNDROME AS A CAUSE OF THE LOWER EXTREMITIES ENLARGEMENT IN INFANTS – A DIAGNOSTIC DILEMMA.
- Authors
Bartosiewicz, Katarzyna; Tuziak, Martyna; Stecewicz, Iwona; Krzywińska-Zdeb, Elżbieta; Romanowska, Hanna; Walczak, Mieczysław; Giżewska, Maria
- Abstract
Klippel-Trenaunay syndrome (KTS) is a rare congenital condition of unknown aetiology. Classical form, which is diagnosed in most cases of KTS is defined by a characteristic triad of symptoms: haemangioma (port wine stains), bone and soft tissue hypertrophy and varicose veins. There is, however, an alternate form in which body regions with soft tissue hypertrophy, do not correspond with haemangiomas and a mild form - lacking one of the triad's symptoms. Broad symptomatology and lack of genetic testing for KTS cause great diagnostic difficulties, especially in infants when some of the symptoms may not be apparent yet. We present a case of an 11-month-old boy with enormous haemangioma and body asymmetry due to enlargement of both lower extremities. During diagnostic process other congenital anomalies with hypertrophy were considered, with special regard to Proteus syndrome (PS).
- Subjects
KLIPPEL-Trenaunay-Weber Syndrome; ABNORMALITIES in the anatomical extremities; HYPERTROPHY; INFANT disease diagnosis; PROTEUS syndrome
- Publication
Przeglad Pediatryczny, 2012, Vol 42, Issue 3, p157
- ISSN
0137-723X
- Publication type
Article