Cleft Palate and Aortic Dilatation as Clues for Loeys–Dietz Syndrome

Abstract

Loeys–Dietz syndrome (LDS) is a rare autosomal-dominant disorder of the connective tissue with some typical vascular findings, skeletal manifestations, craniofacial features, and cutaneous findings with a wide phenotypic spectrum. Six different genes are involved in LDS and the diagnosis is based on the identification of a heterozygous pathogenic variant in TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, or SMAD2 in children with suggestive findings. These genes distinguish LDS into six classes (LDS1–LDS6, respectively). Delay in diagnosis of Loeys–Dietz syndrome may be associated with an adverse prognosis due to a very high augmented risk of early complications such as aortic or vascular rupture. The present report describes a case of an early diagnosis of LDS in a neonate with cleft soft palate and aortic root dilatation.

Special Issue: Advances in Healthcare for Neonates

“…Next-generation sequencing (NGS) and exome and genome sequencing using targeted panel molecular genetic analysis have contributed significantly to advances in newborn care. In this issue of Advances in Newborn Care , Zaza et al describe a neonate with a cleft palate and an aortic root aneurysm, with a pathogenic mutation of exon 8 of TGFBR2 confirming a diagnosis of Loeys–Dietz syndrome [ 8 ]. Advances in molecular genetics will help better diagnose rare conditions using genetic mutations, thus contributing to earlier detection of conditions and better management of these infants.…”