Ultrasound and anatomatological findings in a fetus with Cornelia de Lange Syndrome

Abstract

Introduction: Cornelia de Lange syndrome is a rare hereditary disorder, usually of sporadic presentation. It is characterized by a distinctive facial phenotype, hirsutism, upper extremity abnormalities, and growth retardation. Prenatal diagnosis is limited to the detection of major anomalies, since the features described are not usually detectable by ultrasound.

Objective: to delineate the ultrasound and anatomatological findings in a fetus with Cornelia de Lange syndrome.

Case report: 28-year-old pregnant woman, late admission who arrives at the national reference consultation at Hospital Ramón González Coro with 34 weeks of pregnancy, referred due to suspicion of upper extremity malformations. The ultrasound examination describes a male fetus, shortening of the long bones of the upper extremities, bilateral ectrodactyly, and biometrics below the third percentile. In evolutionary ultrasound a week later, fetal death was diagnosed. An anatomopathological study was carried out where a multi-malformed fetus small for gestational age was described, with craniofacial dysmorphia, microcephaly and reduction defects in the upper extremities. It is concluded as a fetus with Cornelia de Lange syndrome.

Conclusions: the ultrasound association of the fetus with growth restriction and major congenital defects, mainly the reduction of the upper extremities, can generate suspicions of Cornelia de Lange Syndrome, even when there is an absence of characteristic findings at the craniofacial level. Pathological evaluation is essential to confirm the diagnosis and offer quality genetic counselling.