The Microcephaly-Capillary Malformation Syndrome in Two Brothers With Novel Clinical Features

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) [RETIRED]

Stephen Ashwal, David Michelson, Lauren L. Plawner et al. · Neurology · 2009 · 280 citations · Full text

Medicine, Child Health, Pediatrics +17

Macrocephaly with cutis marmorata, haemangioma and syndactyly ??? a distinctive overgrowth syndrome

Jill Clayton‐Smith, Bronwyn Kerr, Hans Brünner et al. · Clinical Dysmorphology · 1997 · 128 citations

Medicine, Anatomy, Pediatrics +16

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

Laura M. McDonell, Ghayda Mirzaa, Diana Alcantara et al. · Nature Genetics · 2013 · 116 citations · Full text

Life Sciences, Genetics, Neuroscience +12

Klippel-Trenaunay syndrome: frequency of cerebral and cerebellar hemihypertrophy on MRI

Asunción Torregrosa, Luis Martí‐Bonmatí, Victoria Higueras et al. · Neuroradiology · 2000 · 59 citations

Medicine, Neurology, Neuroscience +10

The microcephaly‐capillary malformation syndrome

Ghayda Mirzaa, Alex R. Paciorkowski, Christopher D. Smyser et al. · American Journal of Medical Genetics Part A · 2011 · 40 citations · Full text

Medicine, Neurology, Pediatrics +13