First-trimester prenatal diagnosis of Ellis-van Creveld syndrome

被引:5
作者
Chen, Chih-Ping [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
Chen, Chen-Yu [1 ]
Chern, Schu-Rern [2 ]
Su, Jun-Wei [1 ,8 ]
Wang, Wayseen [2 ,9 ]
机构
[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan
[2] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan
[3] Mackay Med Coll, Dept Med, New Taipei City, Taiwan
[4] Asia Univ, Dept Biotechnol, Taichung, Taiwan
[5] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan
[6] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan
[7] Natl Yang Ming Univ, Sch Med, Dept Obstet & Gynecol, Taipei 112, Taiwan
[8] China Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan
[9] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan
来源
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY | 2012年 / 51卷 / 04期
关键词
Ellis-van Creveld syndrome; EVC2; gene; prenatal diagnosis; ATRIOVENTRICULAR-CANAL DEFECT; CONGENITAL HEART-DEFECTS; CHONDROECTODERMAL DYSPLASIA; HYDROLETHALUS SYNDROME; SONOGRAPHIC DIAGNOSIS; POLYDACTYLY SYNDROMES; MUTATIONS; GENE; CILIARY; EVC2;
D O I
10.1016/j.tjog.2012.10.001
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Objective: To present the perinatal findings and first-trimester molecular and transabdominal ultrasound diagnosis of a fetus with Ellis van Creveld (EvC) syndrome. Case Report: A 35-year-old woman was referred for genetic counseling at 13 weeks of gestation because of a family history of skeletal dysplasia. She had experienced one spontaneous abortion, and delivered one male fetus and one female fetus with EvC syndrome. During this pregnancy, a prenatal transabdominal ultrasound at 13(+4) weeks of gestation revealed a nuchal translucency (NT) thickness of 2.0 mm, an endocardial cushion defect, postaxial polydactyly of bilateral hands, and mesomelic dysplasia of the long bones. Amniocentesis was performed at 13(+5) weeks of gestation. Results of a cytogenetic analysis revealed a karyotype of 46,XX and that of a molecular analysis revealed compound heterozygous mutations of c.1195C>T and c.871-2_894de126 in the EVC2 gene. Prenatal ultrasound at 16 weeks of gestation showed a fetus with short limbs, an endocardial cushion defect, and postaxial polydactyly of bilateral hands. The parents decided to terminate the pregnancy, and a 116-g female fetus was delivered with a narrow thorax, shortening limbs, and postaxial polydactyly of the hands. Conclusion: Prenatal diagnosis of an endocardial cushion defect with postaxial polydactyly should include a differential diagnosis of EvC syndrome in addition to short rib-polydactyly syndrome, Bardet-Biedl syndrome, orofaciodigital syndrome, Smith-Lemli-Opitz syndrome, and hydrolethalus syndrome. Copyright (C) 2012, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. All rights reserved.
引用
收藏
页码:643 / 648
页数:6
相关论文
共 50 条
  • [41] Ellis-van Creveld syndrome: report of two cases
    Sumit Mehndiratta
    Amita Tyagi
    Veena Devgan
    World Journal of Pediatrics, 2011, 7 : 368 - 370
  • [42] Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome
    Shi, Lisong
    Luo, Chunyan
    Ahmed, Mairaj K.
    Attaie, Ali B.
    Ye, Xiaoqian
    MOLECULAR GENETICS AND GENOMICS, 2016, 291 (02) : 863 - 872
  • [43] Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates
    Ali, Bassam R.
    Akawi, Nadia A.
    Chedid, Faris
    Bakir, Mahmood
    Rehman, Moghis Ur
    Rahmani, Aiman
    Al-Gazali, Lihadh
    BMC MEDICAL GENETICS, 2010, 11
  • [44] Oral Manifestations in Ellis-van Creveld Syndrome: Report of a Case and Review of the Literature
    Costa Hanemann, Joao Adolfo
    Franco de Carvalho, Breno Carnevalli
    Franco, Emanuela Carvalho
    JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY, 2010, 68 (02) : 456 - 460
  • [45] Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis
    D'Asdia, Maria Cecilia
    Torrente, Isabella
    Consoli, Federica
    Ferese, Rosangela
    Magliozzi, Monia
    Bernardini, Laura
    Guida, Valentina
    Digilio, Maria Cristina
    Marino, Bruno
    Dallapiccola, Bruno
    De Luca, Alessandro
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2013, 56 (02) : 80 - 87
  • [46] Ellis-van Creveld Syndrome 2 With Novel Partial Exon 11 Deletion: A Case From Saudi Arabia
    Alessa, Nouf
    Mahnashi, Mohammed A.
    Fatehi, Lana
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2021, 13 (09)
  • [47] Oral and craniofacial manifestations of Ellis-Van Creveld syndrome: a systematic review
    Lauritano, D.
    Attuati, S.
    Besana, M.
    Rodilosso, G.
    Quinzi, V
    Marzo, G.
    Carinci, F.
    EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY, 2019, 20 (04) : 306 - 310
  • [48] First-Trimester Prenatal Diagnosis of Okihiro Syndrome
    Becker, R.
    Horn, D.
    Knoll, U.
    Stumm, M.
    Wegner, R. D.
    Peters, H.
    Sarioglu, N.
    FETAL DIAGNOSIS AND THERAPY, 2010, 27 (04) : 222 - 226
  • [49] Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome
    D'Ambrosio, Valentina
    Votino, Carmela
    Cos, Teresa
    Boulanger, Sebastien
    Dheedene, Annelies
    Jani, Jacques
    Keymolen, Kathelijn
    PRENATAL DIAGNOSIS, 2015, 35 (01) : 97 - 99
  • [50] Ellis-van Creveld syndrome in an Indian child: a case report
    Veena, K. M.
    Jagadishchandra, H.
    Rao, Prasanna Kumar
    Chatra, Laxmikanth
    IMAGING SCIENCE IN DENTISTRY, 2011, 41 (04) : 167 - 170