CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy
Abstract
Mutations in the RASA-1 gene underlie several related disorders of vasculogenesis. Capillary malformation-arteriovenous malformation (CM-AVM) is one such entity and was recently encountered in a neonate who demonstrated its clinical and radiologic features. A single mutation in the RASA-1 gene was detected.A novel flow reduction strategy was employed to a large AVM affecting the patient’s upper limb. The imaging findings, surgical procedure and patient’s improved post-operative state are described.
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Characterization and Analysis of Porosity and Pore Structures
- Practical considerations for conducting ecotoxicity test methods with manufactured nanomaterials: what have we learnt so far?
- Dental Optical Coherence Tomography
- Radiation-shielding concrete: A review of materials, performance, and the impact of radiation on concrete properties
- Testing entanglement of annihilation photons
- Calanus finmarchicus seasonal cycle and diapause in relation to gene expression, physiology, and endogenous clocks
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.