Three-Dimensional Ultrasound Findings in Cornelia de Lange Syndrome: A Case Report

Abstract

Introduction. The objective is to report a case of Cornelia de Lange syndrome (CdLS) diagnosed by detailed observations using three-dimensional sonography. Case Report. A 33-year-old healthy multipara was referred to our hospital at 34-week gestation after severe fetal growth restriction, congenital heart anomaly, and antebrachium abnormality were diagnosed during the third trimester. Further sonography diagnosis on cardiac abnormalities diagnosed the existence of ventricular septal defect in the outflow tract, atrioventricularis communis, and truncus arteriosus communis where the pulmonary artery branched from the common arterial trunk. As for abnormalities of the forearms, ectrodactylia and monodactylism were suspected and the abnormalities were observed sterically by using three-dimensional sonography. A 1986 g (1.07 percentile) male newborn was delivered by assisted breech extraction at 37-week gestation. After birth, from characteristic facies including bushy eyebrow, broad nasal bridge, micrognathia, and abnormalities of the forearms (ectrodactylia and monodactylism), the case was diagnosed with CdLS. Conclusion. Through detailed observation including abnormalities of fingers, we could exemplify this very rare disease as an antenatal diagnoses for fetal growth retardation.

Cornelia de Lange syndrome – a rarely seen disorder

“…A prenatal diagnosis could be made in 6 cases only. [11][12] Our patient also had a dysmorphic facial appearance and phocomelia on the right.…”

Cornelia de Lange syndrome: To diagnose or not to diagnose in utero?

“…Congenital heart diseases have been also reported in ultrasound scan of fetuses affected by CdLS, including ventricular septal defect (Le Vaillant et al, ; Akaori et al, ; Clark et al, ), truncus arteriosus communis (Akaori et al, ), tetralogy of Fallot (Drolshangen et al, ; Clark et al, ), and mild cardiac hypertrophy (Lalatta et al, ). Other cases studied prenatally showed, after birth, congenital heart diseases undetected during the intrauterine life, including severe malformations, such as tetralogy of Fallot (Bruner and Hsia, ; Lalatta, ) and coarctation of the aorta (Chong et al, ).…”

“…Growth failure is considered a typical characteristic of infants affected by CdLS. Prenatal evidence shows that a reduced rate of growth can also be found during intrauterine life (Westergaard et al, ; Bruner and Hsia, ; Drolshagen et al, ; Cunniff et al, ; Jelsema et al, ; Kliewer et al, ; Pankau and Janig, ; Goolsby et al, ; Manouvrier et al, ; Ackerman and Gilbert‐Barness, ; Ranzini et al, ; Boog et al, ; Sekimoto et al, ; Huang and Porto, ; Marino et al, ; Hulinsky et al, ; Price et al, ; Le Vaillant et al, ; Lalatta et al, ; Chong et al, ; Sepulveda et al, ; Wilmink et al, ; Kanellopoulos et al, ; Akahori et al, ; Spaggiari et al, ): symmetrical intrauterine growth restriction has often been reported, with a trend of fetal abdominal and cephalic circumference that falls below the 10th percentile at approximately 25 weeks of gestation (Kliewer et al, ), but sometimes earlier, at 20 to 21 weeks of gestation (Boog et al, ; Sekimoto et al, ; Le Vaillant et al, ; Price et al, ) or even before the week 20 (Bruner and Hsai, ).…”

“…Defects may be asymmetric or bilateral and range from clinodactyly (Lalatta et al, ; Kanelloupous et al, ), oligodactyly (Ranzini et al, ; Boog et al, ; Wilmink et al, ; Clark et al, ; Kanelloupoulos et al, ), to monodactyly (Sepulveda et al, ; Weichert, ; Akahori et al, ) or ectrodactyly (Marino et al, , Chong et al, ; Akahori et al, ), consisting of undeveloped hands with a few rudimentary bones in the hands (Chong et al, ). Long bones could be affected by persistently flexed forearms (Monouvrier et al, ; Ranzini et al, ; Boog et al, ; Chong et al, ; Kanelloupoulos et al, ), and single shortened forearm bones (Boog et al, ; Urban, ; Marino et al, ; Price et al, ; Chong et al, ; Sepulveda et al, ).…”

“…Goolsby , Monouvrier , Ranzini , Boog , Sekimoto , Urban , Marino , Price , Lalatta , Chong , Sepulveda , Wilmink , Kanelloupoulos , Weichert , Akahori , Clark …”