Inherited Pial Arteriovenous Fistula in Capillary Malformation–Arteriovenous Malformation Family
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DOI: 10.1002/ana.26316
Abstract: A 3-year-old girl with a 2-month history of pain and weakness in both legs presented to our clinic. Physical examination showed weakness of bilateral legs (muscle strength: grade 3) and multiple cutaneous red maculae (Fig… read more here.
Keywords: arteriovenous malformation; malformation; arteriovenous fistula; see fig ... See more keywords
482 GNAQ Mutation Identified in a Patient with Congenital Capillary Malformation and Soft Tissue Overgrowth
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DOI: 10.1093/ajcp/aqaf121.096
Abstract: Capillary malformations are vascular anomalies affecting ∼2% of newborns. They may occur in isolation or part of a syndromic condition with other features such as soft tissue overgrowth. Genetic testing is increasingly used to aid… read more here.
Keywords: mutation; capillary malformation; tissue overgrowth;
Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome
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DOI: 10.1111/pde.13514
Abstract: Characteristic lower lip capillary malformation of CLAPO syndrome (Capillary malformation of the lower lip, Lymphatic malformations of the face and neck, Asymmetry, and Partial or generalized Overgrowth) may also occur as an isolated lesion or… read more here.
Keywords: capillary malformation; lower lip; clapo syndrome; malformation ... See more keywords
Clinical and genetic evaluation of six children with diffuse capillary malformation and undergrowth
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DOI: 10.1111/pde.14252
Abstract: Diffuse capillary malformation with overgrowth (DCMO) has been well described. However, capillary malformation with undergrowth (CMU) has been less reported in the literature. read more here.
Keywords: capillary malformation; malformation undergrowth; clinical genetic; malformation ... See more keywords
Capillary malformation‐arteriovenous malformation syndrome associated with basilar artery aneurysm
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DOI: 10.1111/pde.15001
Abstract: A 23‐day‐old boy with prenatal diagnosis of basilar artery aneurysm presented with multiple congenital red patches consistent with capillary malformations. Genetic testing confirmed the presence of a heterozygous pathogenic variant of the RASA1 gene, confirming… read more here.
Keywords: basilar artery; artery aneurysm; malformation; capillary malformation ... See more keywords
Generalised nevus flammeus, episcleral capillary malformation and glaucoma
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DOI: 10.1136/bcr-2018-227248
Abstract: A 35-year-old woman presented with no vision, redness, pain and photophobia in the left eye (LE) since 4 months. This was associated with left-sided headache and vomiting too. She had history of poor vision in… read more here.
Keywords: generalised nevus; capillary malformation; flammeus episcleral; nevus flammeus ... See more keywords
Prenatal diagnosis and delivery of megalencephaly–capillary malformation syndrome
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DOI: 10.1136/bcr-2022-249587
Abstract: Hemimegalencephaly (HME) is a rare neurological diagnosis defined as hamartomatous overgrowth of one cerebral hemisphere. The hypothesised pathogenesis is due to an increased number or size of neural cells; however, the exact mechanism can vary… read more here.
Keywords: diagnosis; megalencephaly capillary; malformation syndrome; prenatal diagnosis ... See more keywords
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
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DOI: 10.1161/circulationaha.116.026886
Abstract: Background: Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and capillary malformation (CM)-AVM. Previously, we identified RASA1 mutations in 50%… read more here.
Keywords: capillary malformation; loss function; malformation; germline loss ... See more keywords
De novo intracranial arteriovenous malformation development after endovascular treatment for a pial arteriovenous fistula in capillary malformation-arteriovenous malformation syndrome
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DOI: 10.1177/1591019920940515
Abstract: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a newly described entity characterized by autosomal dominantly inherited multifocal capillary malformations caused by RASA1 mutations (CM-AVM1) or EPHB4 mutations (CM-AVM2). Concurrent high-flow vascular anomalies in the brain are… read more here.
Keywords: capillary malformation; malformation; novo intracranial; arteriovenous malformation ... See more keywords
Syndromic capillary malformation with leg length discrepancy: Parkes-Weber syndrome treated by embolization, chemotherapy and Ilizarov technique
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DOI: 10.1186/s41065-025-00474-9
Abstract: Capillary malformations (CMs) are congenital low-flow vascular anomalies caused by dilated capillaries. Leg length discrepancy (LLD) is the condition characterized by unequal lower limb lengths, leading to functional and postural challenges. Capillary malformation with leg… read more here.
Keywords: length discrepancy; malformation leg; leg length; capillary malformation ... See more keywords
Efficacy and safety of endovascular embolization for capillary malformation-arteriovenous malformation of the auricular and periauricular region in pediatric patients
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DOI: 10.21037/qims-2025-1107
Abstract: Background Capillary malformation-arteriovenous malformation of the auricular and periauricular region, and its treatment are rarely reported. This study aims to describe the effectiveness and safety of endovascular embolization for capillary malformation-arteriovenous malformation of the auricular… read more here.
Keywords: malformation; endovascular embolization; embolization; malformation arteriovenous ... See more keywords