Macrocephaly-capillary malformation: a report of four Chinese patients and literature review.

Clin Dysmorphol

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.

Published: April 2012

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.

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Source
http://dx.doi.org/10.1097/MCD.0b013e328350509bDOI Listing

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