Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare genetic condition characterized by the presence of capillary malformations and a risk of arteriovenous malformations ...
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare disorder that arises as a result of a somatic ... He was found to have hall-mark clinical signs; macrocephaly and ...
We report a case outlining the prenatal diagnostic process and obstetric considerations for delivering an infant with HME secondary to megalencephaly–capillary malformation syndrome. After diagnosis, ...
BACKGROUND We have previously described an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED), and distinctive facies in a large, extended Omani family. The MED observed ...