title: Macrocephaly-capillary malformation:  a report of four Chinese patients and literature review.
abstract: We report a series of four patients with macrocephaly-capillary malformation (M-CM) who are the first ever reported M-CM patients among Chinese individuals. The salient clinical features and recent diagnostic criteria are discussed. M-CM is a multisystem disease characterized by macrocephaly and cutaneous vascular malformation. Neurodevelopmental abnormalities such as developmental delay, structural brain malformation, and hydrocephalus are common, and thus vigilant clinical and neuroradiological assessment is essential during the first few years of life. Cardiac and tumour surveillance would also be beneficial in selected cases.
authors.affiliation: Clinical Genetic Service, Department of Health Department of Obstetstic and Gynecology, Queen Mary Hospital Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Tai Po, Hong Kong, China.
authors.forename: Ho Ming
authors.initials: HM
authors.lastname: Luk
authors.forename: Ivan F M
authors.initials: IFM
authors.lastname: Lo
authors.forename: Carman W S
authors.initials: CWS
authors.lastname: Lai
authors.forename: Wai Lan
authors.initials: WL
authors.lastname: Yeung
authors.forename: Stephen T S
authors.initials: STS
authors.lastname: Lam
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D044466:Asian People; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002681:China; D019066:Facies; D005260:Female; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D058627:Megalencephaly / Q000175:diagnosis*; D017445:Skin Diseases, Vascular / Q000175:diagnosis*; D013577:Syndrome; D013684:Telangiectasis / Q000151:congenital* / Q000175:diagnosis