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).… Show more
“…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.…”
“…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.…”
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