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

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...

Full description

Saved in:
Bibliographic Details
Published in:Children (Basel) 2022-08, Vol.9 (9), p.1290
Main Authors: Zaza, Pierluigi, Indrio, Flavia, Fracchiolla, Annalisa, Rinaldi, Matteo, Meliota, Giovanni, Salatto, Alessia, Bonacaro, Antonio, Maffei, Gianfranco
Format: Article
Language:English
Subjects:
Abdomen
Aortic aneurysms
aortic dilatation
Aortic dissection
Birth defects
Case Report
Childrens health
Cleft palate
Connective tissue
Coronary vessels
Cysts
Families & family life
Genes
genetic syndrome
Infants (Newborn)
Loeys–Dietz syndrome
Marfan syndrome
Mutation
Patients
Physiological aspects
Prognosis
Pulmonary arteries
Scoliosis
Ultrasonic imaging
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 , , , , , or 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.
ISSN:2227-9067
2227-9067
DOI:10.3390/children9091290