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Three-dimensional sonographic findings associated with ectrodactyly ectodermal dysplasia clefting syndrome
Lisa M Allen1, Mary Jo Maestri
1Regional 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
Summary
Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome, a rare genetic disorder, was diagnosed prenatally. The case highlights key features including limb malformations, cleft lip/palate, and renal dysplasia, emphasizing early detection through advanced imaging.
Area of Science:
- Genetics and Developmental Biology
- Medical Imaging
- Pediatric Medicine
Background:
- Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome is a rare autosomal dominant disorder.
- It presents with variable ectrodactyly, ectodermal dysplasia, and cleft lip/palate.
- Genitourinary abnormalities are frequently associated with EEC syndrome.
Observation:
- A case of classic familial EEC syndrome was diagnosed via prenatal sonography at 17 weeks' gestation.
- The fetus exhibited tetraectrodactyly, unilateral cleft lip and palate.
- Renal dysplasia was identified through serial sonographic evaluations.
Findings:
- Prenatal diagnosis of EEC syndrome is feasible with advanced ultrasound techniques.
- Three-dimensional (3D) surface rendering enhanced the evaluation of the fetal phenotype.
- The case underscores the importance of comprehensive sonographic assessment for genetic syndromes.
Implications:
- Early prenatal diagnosis of EEC syndrome allows for timely intervention and management planning.
- Advanced imaging modalities like 3D sonography improve diagnostic accuracy for complex congenital anomalies.
- Understanding the phenotypic variability aids in genetic counseling and family planning for affected individuals.
