title: Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.
abstract: Macrocephaly-capillary malformation (M-CM) is a genetic syndrome of unknown etiology characterized by an enlarged head circumference and patchy, reticular capillary malformation. We describe the clinical features of 13 cases, report on the genome-wide Copy Number Variation characterization of these patients, analyze the main clinical features of this syndrome and propose a modification of the current diagnostic criteria: the inclusion of both overgrowth/asymmetry and neuroimaging alterations as major criteria.
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain. vmartinezg.hulp@salud.madrid.org
authors.forename: Víctor
authors.initials: V
authors.lastname: Martínez-Glez
authors.forename: Valeria
authors.initials: V
authors.lastname: Romanelli
authors.forename: María A
authors.initials: MA
authors.lastname: Mori
authors.forename: Ricardo
authors.initials: R
authors.lastname: Gracia
authors.forename: Mabel
authors.initials: M
authors.lastname: Segovia
authors.forename: Antonio
authors.initials: A
authors.lastname: González-Meneses
authors.forename: Juan C
authors.initials: JC
authors.lastname: López-Gutierrez
authors.forename: Esther
authors.initials: E
authors.lastname: Gean
authors.forename: Loreto
authors.initials: L
authors.lastname: Martorell
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D002196:Capillaries / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D054068:Livedo Reticularis; D008297:Male; D058627:Megalencephaly / Q000175:diagnosis* / Q000473:pathology; D019339:Port-Wine Stain / Q000175:diagnosis* / Q000473:pathology; D017445:Skin Diseases, Vascular / Q000235:genetics; D013577:Syndrome; D013684:Telangiectasis / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D005819:Genetic Markers