An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL.

Abstract

CNLS is a multisystemic malformative syndrome caused by variants in genes of the cohesin complex, with the most common form due to variants in NIPBL. Phenotype is variable, but facial dysmorphisms and skeletal anomalies represent the most common expressions of the syndrome. In this report, we describe de novo c.5731 C > T p.(Gln1911*) variant in NIPBL in a fetus with severe upper limbs' malformations. These malformations have been rarely described in CDLS and are, at the same time, possibly indicative of Ulnar-Mammary syndrome. Hence, we highlight the differential diagnosis and the need for exome sequencing in case this rare phenotype is encountered in the fetus.