Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation

Abstract

Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies. Other manifestations of EVC include atrial septum defects and other congenital heart diseases. We report a case of the EVC syndrome with postaxial polydactyly (Synpolydactyly with seven fingers on the right side and hexadactyly on the left side) and a partial atrioventricular canal defect diagnosed antenatally. This variation of EVS has not been reported in English literature till date.

Fetal Hand Abnormalities in the First-Trimester Scan: A Report of Two Cases

“…Therefore, since hexadactyly was associated with a severe cardiac anomaly, incompatible with life, the couple decided to proceed to termination of pregnancy without further invasive tests for karyotype. Similar to our case, many authors have commented on the association of polydactyly with heart defects, either as part of a syndrome (e.g., Holt-Oram syndrome) [14,15] or as an isolated, non-syndromic finding [16].…”

Ellis-Van Creveld Syndrome: Radiological Findings of a Case and Review of the Literature

“…50-60% of the patients have congenital cardiac malformations, most frequently a single atrium or a atrioventricular (AV) defect, and the prognosis depends on the severity of cardiac defects along with respiratory insufficiency. 10 Our patients also received oxygen treatment and respiratory support after birth for a combination of meconium aspiration and underdeveloped lungs. She had multiple cardiac defects including single atrium and atrioventricular septal defect (AVSD) depicted by ECHO.…”

“…Shortening of the distal and middle phalanges more than the proximal phalanges results in square shaped hands. 10,13 Bell-shaped short and narrow chest can be seen on chest X-ray secondary to short poorly developed ribs, and underdeveloped lungs are present. A pectus carinatum may be present and the heart is usually enlarged.…”

“…Postaxial polydactyly and congenital cardiac defects are common findings in McKusick-Kaufman syndrome and EVC, but in McKusick-Kaufman syndrome hydrometrocolpos is seen in girls. 7,10 There is no definite cure for this rare genetic disease. Treatment of EVC is usually symptomatic and a multidisciplinary approach including Pulmonologist, Cardiologist, Orthopedist, Physchiatrist, Plastic surgeon and Dentist is needed.…”