Challenges in Prenatal Diagnosis of Cornelia de Lange Syndrome: A Case Study

In this case study we describe the prenatal and postnatal course of a patient with Cornelia de Lange Syndrome (CdLS) focusing on the prenatal diagnostic challenges. During a routine prenatal ultrasonographic survey, a 19 weeks female fetus was found to have several anatomical anomalies including poorly visualized cavum septum pellucidum. Fetal growth was normal at that time. Fetal brain MRI at 22 weeks demonstrated an enlarged extra-axial space and scalp edema, but no other apparent anomalies. Amniocentesis revealed normal karyotype and chromosomal microarray. Postnatally the infant possessed physical features suggestive of CdLS (growth restriction, microcephaly, limb deformities), later genetically confirmed with a mutation in NIPBL gene. Postnatal brain MRI demonstrated brachycephaly, immature frontal lobe sulcation, and partial agenesis of the corpus callosum that were not seen on the fetal MRI. The case supports previous radiological findings, emphasizing the importance of subtle ultrasonographic and MRI features that potentially could lead to earlier detection of the syndrome.


Michael Stanley, Tomo Tarui and Alexa Craig

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Journal of Rare Disorders: Diagnosis & Therapy received 158 citations as per google scholar report

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