Rios Livia T, Araujo Júnior Edward, Caetano Ana C R, Nardozza Luciano M, Moron Antonio F, Martins Marília G
Mother-Child Unit, Universitary Hospital, Federal University of Maranhão (UFMA), São Luiz, MA, Brazil.
J Clin Imaging Sci. 2012;2:40. doi: 10.4103/2156-7514.99153. Epub 2012 Jul 28.
ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be made by two-dimensional ultrasonography (2DUS) that identifies the facial and/or limb anomalies, most characteristic being the "lobster-claw" hands. The three-dimensional ultrasonography (3DUS) provides a better analysis of the malformations than the 2DUS. A 25-year-old primigravida, had her first transvaginal ultrasonography that showed an unique fetus with crow-rump length of 47 mm with poorly defined hands and feet,. She was suspected of having sporadic form of EEC syndrome. The 2DUS performed at 19 weeks confirmed the EEC syndrome, showing a fetus with lobster-claw hands (absence of the 2(nd) and 3(rd) fingers), left foot with the absence of the 3rd toe and the right foot with syndactyly, and presence of cleft lip/palate. The 3DUS defined the anomalies much better than 2DUS including the lobster-claw hands.
EEC综合征是一种遗传性异常疾病，其特征为三联征：外胚层发育不良（源自胚胎外胚层的结构出现发育异常）、缺指（趾）畸形（四肢、手和脚的畸形）以及唇裂和/或腭裂；这些畸形可同时出现或单独出现。产前诊断可通过二维超声检查（2DUS）进行，该检查可识别面部和/或肢体异常，最典型的表现是“龙虾爪”样手。三维超声检查（3DUS）对畸形的分析比2DUS更好。一名25岁的初产妇进行了首次经阴道超声检查，结果显示单胎妊娠，头臀长47毫米，手和脚显示不清。她被怀疑患有散发性EEC综合征。孕19周时进行的2DUS检查确诊为EEC综合征，显示胎儿有龙虾爪样手（第2和第3指缺如），左脚第3趾缺如，右脚并趾，并有唇裂/腭裂。3DUS对畸形的界定比2DUS好得多，包括龙虾爪样手。
