Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome.
Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome is a rare autosomal dominant genetic syndrome. This condition is characterized by varying degrees of ectrodactyly and syndactyly of the hands and feet, a cleft lip with or without a cleft palate, and ectodermal dysplasia. In addition, abnormalities of the genitourinary system occur frequently in association with this syndrome. The wide clinical variability of EEC syndrome has been well documented in the literature, and none of the 3 cardinal signs seem to be obligatory. We present a case of classic familial EEC syndrome diagnosed by prenatal sonography at 17 weeks' gestation. In addition to tetraectrodactyly and a unilateral cleft lip and palate, renal dysplasia was noted on serial sonographic evaluation. Three-dimensional (3D) surface rendering was used to supplement traditional 2-dimensional (2D) imaging to further evaluate the fetal phenotype.
Allen
Lisa M
LM
Regional Perinatal Center, Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, State University of New York Upstate Medical University, Syracuse, NY 13202, USA. allenlm@upstate.edu
Maestri
Mary Jo
MJ
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D002971:Cleft Lip / Q000000981:diagnostic imaging*; D002972:Cleft Palate / Q000000981:diagnostic imaging*; D004476:Ectodermal Dysplasia / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D013576:Syndactyly / Q000000981:diagnostic imaging*; D013577:Syndrome; D016216:Ultrasonography, Prenatal