Abstract
Case Report: An association of capillary malformations with hypoplasia of distal phalanges, severe malformation of cortical development with progressive microcephaly, drug-resistant epilepsy, and severe developmental delay was newly described in 2011. Five patients from four different families have been reported, suggesting an autosomal-recessive inheritance. The constellation was described as microcephaly-capillary malformation syndrome. A consortium has been established to elucidate the molecular genetic cause of the disorder. We describe the first German patient.
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