Search
Search Results
-
Gastrointestinal involvement in Klippel-Trénaunay syndrome: pathophysiology, evaluation, and management
Klippel-Trénaunay syndrome is typically a complex combined capillary-lymphatic-venous malformation in lower limb. Gastrointestinal involvement is not...
-
A neonate with Klippel–Trénaunay syndrome: a case report
BackgroundKlippel–Trénaunay syndrome is a rare congenital capillary–lymphatic–venous condition characterized by the clinical triad of capillary...
-
Periosteal new bone formation in Klippel-Trénaunay syndrome: a case report
BackgroundKlippel-Trénaunay syndrome (KTS) is a complex congenital vascular disorder, typically accompanied by port-wine stains, varicose veins, and...
-
Hemispherotomy in an infant with hemimegalencephaly and Ohtahara syndrome
We represent the case of a premature twin neonate born from uncomplicated pregnancy who developed seizures at the age of 24 h. Two-dimensional...
-
Map** the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach
BackgroundPROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the...
-
An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report
BackgroundKlippel-Trénaunay syndrome (KTS) is a rare congenital condition characterized by the clinical triad of capillary malformations (port wine...
-
Radiological Aspect of Klippel-Trénaunay Syndrome: A Case Series With Review of Literature
Klippel-Trénaunay syndrome (KTS) is a rare angio-osteo-hypertrophic syndrome characterized by vascular malformations, soft tissue and/or bone...
-
-
Overview of patients’ cohorts in the French National rare disease registry
In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This...
-
High levels of serum sclerostin and DKK1 in a case of Klippel-Trénaunay syndrome
Klippel-Trénaunay syndrome (KTS) is described as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic...
-
Die Marginalvene – nach wie vor eine seltene Entität: Fallserie von 16 Patienten
BackgroundThe marginal vein (MV) is a congenital, predominantly venous vascular malformation, which is based on a lack of regression of the embryonic...
-
Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons
PurposeSturge-Weber syndrome (SWS) is a neurocutaneous facomatosis characterized by facial and leptomeningeal angioma, glaucoma, seizures, and...
-
Pediatric orbital lesions: non-neoplastic extraocular soft-tissue lesions
Orbital pathologies can be broadly classified as ocular, extraocular soft-tissue (non-neoplastic and neoplastic), osseous, and traumatic. In this...
-
Fibro-adipose vascular anomaly (FAVA) - diagnosis, staging and management
BackgroundThe diagnosis and treatment of fibro-adipose vascular anomaly (FAVA) of the limb remains challenging since this entity is rare and complex....
-
-
Syndrome mit vaskulären Anomalien der Haut
BackgroundIn many complex genetic syndromes, various distinct capillary nevi may serve as diagnostic clues.
ObjectiveTo render dermatologists in...
-
Pediatric orbital lesions: ocular pathologies
Orbital pathologies can be broadly classified as ocular, extra-ocular soft-tissue (non-neoplastic and neoplastic), osseous, and traumatic. In part 1...
-
Spectrum of bowel wall thickening on ultrasound with pathological correlation in children
Applications for bowel US in children have been well described; however, less focus has been placed on patterns of bowel wall architectural change in...
-
Patients with Congenital Low-Flow Vascular Malformation Treated with Low Dose Sirolimus
IntroductionPatients with congenital vascular malformations often suffer from an impaired quality of life (QoL) because of pain and functional...
-
Intra-articular venous malformations of the knee: a diagnostic challenge
BackgroundIntra-articular venous malformations (IAVM) are rare benign vascular anomalies that usually affect young patients and most common locate in...
