Brachmann-de Lange Syndrome

Abstract

33-year-old woman, gravida 3, para 2, was referred to our center at 23 weeks' gestation because of the prenatal detection of bilateral upper limb anomalies during the second-trimester anatomy scan. Her medical and family histories were unremarkable, and her previous pregnancies were uncomplicated, resulting in the delivery of healthy infants at term. There was no history of consanguinity or teratogenic exposure, and the current pregnancy was otherwise uncomplicated. A first-trimester sonogram confirmed the dates and revealed a normal nuchal translucency thickness. Conventional 2-dimensional (2D) sonography at referral revealed a singleton fetus in a breech presentation, a high anterior placenta, a normal amniotic fluid volume, and fetal biometric measurements consistent with dates. Detailed examination of the fetal anatomy confirmed bilateral micromelia affecting the upper limbs, the presence of a single short bone in both forearms, and bilateral monodactyly, findings that were confirmed with 3-dimensional (3D) surface-rendered imaging (Voluson 730 Expert; GE Healthcare, Milwaukee, WI; Figures 1 and 2). In addition, an abnormal fetal profile was noted, including a hypoplastic nasal bone, prenasal and prefrontal edema, a depressed nasal bridge, a long philtrum, anteverted nostrils, and micrognathia (Figure 3). The rest of the fetal anatomy appeared normal. A follow-up sonographic examination was performed at 26 weeks, at which time the characteristic facial features of Brachmann-de Lange syndrome were confirmed ( Figure 4). Of note, long eyelashes were also noted ( Figure 5). Fetal biometric measurements at this stage revealed suboptimal growth, and follow-up scans showed progressive fetal growth restriction (FGR), although uteroplacental Doppler findings and the amniotic fluid volume remained normal throughout most of the third trimester. A formal fetal echocardiogram was reported as normal. At 37 weeks, a male neonate weighing 1580 g with Apgar scores of 9 at 1 and 5 minutes, respectively, was born by cesarean delivery owing to severe FGR, increased resistive indices in the umbilical artery, and oligohydramnios. The diagnosis of Brachmann-de Lange syndrome was confirmed by a pediatric geneticist at neonatal examination.

A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis

“…The affected babies present with the following facial characteristics, including a bulging forehead with frontal bossing, depressed nasal bridge, long bulging philtrum, and micrognathia. A three-dimensional and/or two-dimensional ultrasound scan may identify these findings [8, 9]. The prenatal detection associated with limb defects and FGR may significantly improve the early prenatal diagnosis of CdLS.…”

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

“…There are several reports on antenatal diagnosis of CdLS [5–9]. By using intrauterine growth retardation as a trigger for antenatal diagnosis, CdLS is diagnosed by abnormalities of upper arms, congenital heart diseases, and characteristic facies.…”