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
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
Capillary Malformation - Arteriovenous Malformation Type 2: Case Report and Review.
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DOI: 10.2340/actadv.v102.1126
Abstract: Capillary malformation - Arteriovenous malformation syndrome (CM-AVM) is a rare genodermatosis with cutaneous capillary malformations (CMs) and a risk of associated fast-flow malformations. A four-generation family with a novel heterozygous pathogenic variant in the EPHB4-gene… read more here.
Keywords: review; malformation; capillary malformation; malformation type ... See more keywords
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
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DOI: 10.3390/genes14030549
Abstract: Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal… read more here.
Keywords: arteriovenous malformation; malformation; avm syndrome; capillary malformation ... See more keywords