RESUMEN

Microcephaly-Capillary Malformation syndrome (MIC-CAP) is a rare genetic disorder reported in 18 individuals to date. The clinical features typically include microcephaly, multiple cutaneous capillary malformations, seizures, neurologic impairment, and global developmental delay. Currently, there is little published information about the natural history and long-term outcomes for individuals with MIC-CAP. In this report, we provide follow up on two previously published patients and describe four new patients. The included patients highlight increased variability in the clinical spectrum and provide novel information regarding medical complications and recurrent variants.

Asunto(s)

Microcefalia , Malformaciones del Sistema Nervioso , Malformaciones Vasculares , Capilares/anomalías , Humanos , Microcefalia/diagnóstico , Microcefalia/genética , Malformaciones Vasculares/diagnóstico , Malformaciones Vasculares/genética