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Microcephaly–capillary malformation syndrome: A story of rapid emergence of a new recognizable entity

Microcephaly–capillary malformation syndrome: A story of rapid emergence of a new recognizable entity <h1>Clinical Features of the Six Reported Patients With MIC–CAP Syndrome</h1> Carter Pt 1 Carter Pt 2 Isador Pt Mirzaa Pt 1 Mirzaa Pt 2 Mirzaa Pt 3 Multiple capillary malformations of skin + + + + + + Infantile‐onset epilepsy + + + + + + Progressive congenital microcephaly + + + + + + Global DD/ID + + + + + + Hypoplastic distal phalanges + + + + + − Small for gestational age + + − + + + Spastic quadriparesis + + − + + + Hypertelorism + + + + + U Optic atrophy + + U + + + Simplified gyral pattern with enlarged intra‐axial spaces + + U + + + Cerebral hypomyelination + + U − − + Myoclonus + − − + − + Infantile spasms − − − + − + Postnatal short stature + + − − − − DD/ID, developmental delay/intellectual disability; U, unknown. The emerging recognizable syndrome of MIC–CAP is a story of instant information transfer, rapid publication, and international collaboration. In 2008, Patient 1, then 7 weeks of age and in status epilepticus, was evaluated at our institution. His physical appearance was striking, but http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics part A Wiley

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