The 3MC syndrome is a rare autosomal recessive syndrome characterized by facial dysmorphism, multiple congenital abnormalities, and postnatal growth deficiency. Hypertelorism, blepharophimosis, blepharoptosis, high-arched eyebrows, and cleft lip/palate compose the facial gestalt, which is the key component for diagnosing the syndrome. Biallelic pathogenic variants in MASP1, COLEC11, and COLEC10 are responsible for 3MC syndrome in which both genotypic and phenotypic heterogeneity is described. To date, 16 homozygous/compound heterozygous pathogenic variations in 27 patients from 22 families have been reported in the MASP1 gene associated with 3MC syndrome. Here, we report a male patient with a novel homozygous pathogenic variant in MASP1 in whom macrocephaly, pyloric stenosis, and prenatal findings including polyhydramnios, aortic dilatation, and intracranial cysts beside the distinctive facial features were detected. Reporting detailed clinical and molecular findings in patients is pivotal in terms of enabling the phenotypic and genotypic spectrum of this rare syndrome to be delineated.
Mol Syndromol

中文翻译：

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3MC 综合征突变谱的进一步扩展：男性患者中的一种新型 MASP1 致病变异

3MC综合征是一种罕见的常染色体隐性遗传综合征，以面部畸形、多发性先天畸形和出生后生长缺陷为特征。眼距过远、上睑下垂、上睑下垂、高弓眉和唇/腭裂构成了面部格式塔，是诊断该综合征的关键组成部分。MASP1 、COLEC11和COLEC10中的双等位基因致病变异导致3MC 综合征，其中描述了基因型和表型异质性。迄今为止，在与 3MC 综合征相关的MASP1基因中，已经报道了来自 22 个家系的 27 名患者的 16 种纯合/复合杂合致病变异。在这里，我们报告了一名男性患者，该患者在MASP1中具有新的纯合致病性变异在这些患者中，除了独特的面部特征外，还发现了大头畸形、幽门狭窄和产前检查结果，包括羊水过多、主动脉扩张和颅内囊肿。报告患者的详细临床和分子发现对于描绘这种罕见综合征的表型和基因型谱至关重要。
摩尔综合症