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Hemangiomas and Vascular Malformations in Infants and Children: A Classification Based on Endothelial Characteristics
… Those difficulties which have hitherto amused philosophers, and blocked up the way to knowledge, are entirely owing to ourselves. That we have first raids a dust and then complain we cannot see.
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Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes inExpand
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Arteriovenous Malformations of the Head and Neck: Natural History and Management
&NA; This is a retrospective review of 81 patients with extracranial arteriovenous malformation of the head and neck who presented to the Vascular Anomalies Program in Boston over the last 20 years.Expand
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Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.
Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable and appears to affect patients in a mosaic manner. This intrinsicExpand
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Sclerotherapy of craniofacial venous malformations: complications and results.
Of all vascular anomalies, venous malformations are the most common, and they have a propensity for the head and neck. The authors retrospectively analyzed 40 patients with craniofacial venousExpand
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Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
Capillary malformation (CM), or "port-wine stain," is a common cutaneous vascular anomaly that initially appears as a red macular stain that darkens over years. CM also occurs in several combinedExpand
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Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) is a sporadically occurring, nonhereditary disorder characterized by asymmetric somatic hypertrophy andExpand
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TFAP2A mutations result in branchio-oculo-facial syndrome.
Branchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity. The major features include cutaneous anomalies (cervical, infra-Expand
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Thrombocytopenic Coagulopathy (Kasabach‐Merritt Phenomenon) Is Associated with Kaposiform Hemangioendothelioma and Not with Common Infantile Hemangioma
&NA; Children with a large vascular tumor and associated Kasabach‐Merritt coagulopathy respond inconsistently to therapy and have a high mortality rate. For this reason, we undertook a retrospectiveExpand
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Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and otherExpand
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