Article
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
American journal of medical genetics. Part A - 1 May 2009
Gripp Karen W, Hopkins Elizabeth, Vinkler Chana, Lev Dorit, Malinger Gustavo, Lerman-Sagie Tally, Dobyns William B
Abstract excerpt
We report on three patients with macrocephaly and polymicrogyria, and additional anomalies seen in megalencephaly polymicrogyria-polydactyly hydrocephalus (MPPH) and macrocephaly capillary malformation (MCM) syndromes. Based on their characteristic brain malformations they were originally diagnosed with MPPH. In one patient the phenotype evolved during early infancy, and ultimately resulted in a diagnosis of MCM....
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