Savukyne Egle, Machtejeviene Egle, Bajeruniene Kotryna, Asmoniene Virginija
Department of Obstetrics and Gynecology, Lithuanian University of Health Sciences, Medical Academy, Kaunas, Lithuania.
Department of Genetics and Molecular Medicine, Lithuanian University of Health Sciences, Medical Academy, Kaunas, Lithuania.
Case Rep Perinat Med. 2022 Apr 7;11(1):20210076. doi: 10.1515/crpm-2021-0076. eCollection 2022 Jan.
The ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome is a rare genetic anomaly described as ectrodactyly (hands and feet), ectodermal dysplasia, and facial cleft with an incidence of around 1 in 90,000 in the population. This syndrome belongs to the TP63 gene's mutation family. Ectrodactyly is described as the absence of the central toes or fingers or parts of these appendages. Ectodermal dysplasia usually includes changes in the skin, teeth, hair, nails, endocrine glands, nasolacrimal ducts, genitourinary system, conductive hearing loss.
This is a unique case of a 40-year-old second gravida, suspected of having a sporadic form of EEC syndrome. Routine transabdominal ultrasound at 14 weeks of gestation revealed malformation of the limbs. The two-dimensional and three-dimensional ultrasound at 16 weeks showed a fetus with ectrodactyly of right hand and foot and cleft palate presence. Diagnostic amniocentesis was performed at 17 weeks of gestation. A molecular genetics test using the Sanger sequencing method from amniotic fluid was performed by scanning TP63 gene sequences and revealed a heterozygous pathogenic variant in TP63. The patient decided on feticide.
The heredity of the syndrome is autosomal dominant with high variable expression. More than 300 clinical cases of this syndrome are described in the literature, including both sexes, but the actual etiology is unknown.
缺指（趾）-外胚层发育不良-腭裂（EEC）综合征是一种罕见的基因异常疾病，其特征为缺指（趾）（手和足）、外胚层发育不良以及面部腭裂，在人群中的发病率约为90000分之一。该综合征属于TP63基因突变家族。缺指（趾）表现为中央脚趾或手指缺失或这些附属器官的部分缺失。外胚层发育不良通常包括皮肤、牙齿、毛发、指甲、内分泌腺、鼻泪管、泌尿生殖系统的变化以及传导性听力损失。
这是一例独特的病例，患者为一名40岁的经产妇，疑似患有散发型EEC综合征。妊娠14周时的常规经腹超声检查发现肢体畸形。妊娠16周时的二维和三维超声显示胎儿右手和右脚缺指（趾）且存在腭裂。妊娠17周时进行了诊断性羊膜穿刺术。通过扫描TP63基因序列，采用羊水Sanger测序法进行分子遗传学检测，结果显示TP63基因存在杂合致病性变异。患者决定终止妊娠。
该综合征的遗传方式为常染色体显性遗传，具有高度可变的表达。文献中描述了300多例该综合征的临床病例，涵盖了男女两性，但实际病因尚不清楚。
