We describe a fetus with Cornelia de Lange syndrome diagnosed after termination of pregnancy at 21 weeks. Prenatally, growth retardation, diaphragmatic hernia, cystic hygroma and a right hand with only three rays were diagnosed by ultrasound in the second trimester of pregnancy. Postnatal magnetic resonance imaging confirmed the prenatal findings, and the presence of the typical dysmorphic features led to the diagnosis of Cornelia de Lange syndrome. The diagnosis was confirmed by the finding of a truncating mutation in the NIPBL gene. This case illustrates that the diagnosis Cornelia the Lange syndrome can be suspected prenatally in the second trimester, and can be diagnosed in fetuses after induction or newborns at birth as the typical phenotype is present early.

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Keywords Anomalies, limb, Cornelia de Lange syndrome, Hernia, diaphragmatic, NIPBL mutation, Phenotype, fetal
Persistent URL dx.doi.org/10.1159/000236361, hdl.handle.net/1765/24931
Journal Fetal Diagnosis and Therapy
Wilmink, F.A, Papatsonis, D.N.M, Grijseels, E.W.M, & Wessels, M.W. (2009). Cornelia de lange syndrome: A recognizable fetal phenotype. Fetal Diagnosis and Therapy, 26(1), 50–53. doi:10.1159/000236361