Congenital Subcutaneous Mixed Venous-Lymphatic Orofacial Malformation Associated with Macroglossia: Prenatal Diagnosis with Ultrasound and Fetal MRI

Abstract

Subcutaneous mixed venous-lymphatic malformations may be proliferative tumors or nonproliferative heterogeneous congenital malformations involving the capillary, lymphatic, venous, or arterial system or be seen as mixed lesions. These lesions may appear as partly solid and cystic (macro- or microcystic) and the prenatal diagnosis relies upon ultrasound and fetal MRI (magnetic resonance imaging) [1]. Macroglossia can be seen as isolated finding or associated to genetic syndromes, commonly in Beckwith-Wiedmann syndrome where macroglossia is detected in 78.6 % of cases [2]. Recently, Poreau et al. [3] have reported a female fetus with macrocephaly and macroglossia harboring 13q31.1 microdeletion encompassing three genes: SPRY2, NDFIP2, and RBM26. NDFIP2 protein is involved in ubiquitination and in Ras/mitogen-activated protein kinase (MAPK) signaling pathways. While SPRY2 protein inhibits the Ras/MAPK pathways, Ras/MAPK pathway plays important role in complex cellular programs including cell differentiation and proliferation.