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Case report


Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound

Livia T RiosEdward Araujo JúniorAna C R CaetanoLuciano M NardozzaAntonio F MoronMarília G Martins
Mother-Child Unit, Universitary Hospital, Federal University of Maranhão (UFMA), São Luiz, MA, Department of Obstetrics, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
Date of Submission: 13-Mar-2012, Date of Acceptance: 10-May-2012, Date of Web Publication: 28-Jul-2012.
Corresponding Author:
Corresponding Author

Edward Araujo Júnior

Associate Professor, Department of Obstetrics, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
E-mail:

Corresponding Author:
Corresponding Author

Edward Araujo Júnior

Associate Professor, Department of Obstetrics, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
E-mail:

DOI: 10.4103/2156-7514.99153 Facebook Twitter Google Linkedin

ABSTRACT


THE EEC SYNDROME IS A GENETIC ANOMALY CHARACTERIZED BY THE TRIAD: 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.
Keywords: Ectodermal Dysplasia, Ectrodactyly, Lobster Claw Hand, Prenatal Diagnosis, Three-dimensional Ultrasonography, Two-dimensional Ultrasonography

Cited in 4 Documents

  1. Deepak Sharma, Chetan Kumar, Sanjay Bhalerao, Aakash Pandita, Sweta Shastri and Pradeep Sharma (2015) Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination. Front. Pediatr. 3:. doi: 10.3389/fped.2015.00051
  2. Harold Chen (2017) Atlas of Genetic Diagnosis and Counseling. (Chapter 77):899. doi: 10.1007/978-1-4939-2401-1_77
  3. Harold Chen (2016) Atlas of Genetic Diagnosis and Counseling. (Chapter 77-2):1. doi: 10.1007/978-1-4614-6430-3_77-2
  4. Alison M. Elliott and Jane A. Evans (2015) Derogatory nomenclature is still being used: The example of split hand/foot. Am. J. Med. Genet. 167(4):928. doi: 10.1002/ajmg.a.36952

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