1.
Clin Dysmorphol
; 21(2): 64-68, 2012 Apr.
Artículo
en Inglés
| MEDLINE
| ID: mdl-22258436
RESUMEN
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.