Luk Ho Ming, Lo Ivan F M, Lai Carman W S, Yeung Wai Lan, Lam Stephen T S
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.
Clin Dysmorphol. 2012 Apr;21(2):64-68. doi: 10.1097/MCD.0b013e328350509b.
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.
我们报告了4例巨头畸形-毛细血管畸形(M-CM)患者,他们是中国人群中首例报道的M-CM患者。文中讨论了其显著的临床特征和最新诊断标准。M-CM是一种多系统疾病,其特征为巨头畸形和皮肤血管畸形。神经发育异常,如发育迟缓、脑结构畸形和脑积水很常见,因此在生命的最初几年进行警惕的临床和神经放射学评估至关重要。在特定病例中,心脏和肿瘤监测也将有益。