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Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From
Melanie Bryan1, Sally Cohen-Cutler2, Katherine A King3
1Division of Endocrinology and Diabetes, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Abstract:
Macrocephaly capillary malformation syndrome (M-CM or MCAP) is a rare overgrowth disorder characterized by primary megalencephaly, overgrowth, and a range of additional anomalies. This report presents findings from a survey of 101 caregivers or individuals with M-CM, collected by the M-CM Network. Respondents shared medical and psychosocial concerns across the age spectrum, with common issues including motor delays, speech deficits, hydrocephalus, and vascular abnormalities. The survey highlighted significant developmental and behavioral challenges for individuals. The report advocates for continued research focused on the comprehensive needs of patients with M-CM.
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