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

Zaza, Pierluigi, Indrio, Flavia, Fracchiolla, Annalisa, Rinaldi, Matteo, Meliota, Giovanni, Salatto, Alessia, Bonacaro, Antonio and Maffei, Gianfranco (2022) Cleft Palate and Aortic Dilatation as clues for Loeys–Dietz Syndrome. Children, 9. pp. 1-9. ISSN 2227-9067

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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.

Item Type: Article
Uncontrolled Keywords: Loeys–Dietz syndrome, cleft palate, aortic dilatation, genetic syndrome
Subjects: R Medicine > RT Nursing
R Medicine > RZ Other systems of medicine
Divisions: Other Departments (Central units) > Research & Enterprise
Depositing User: Antonio Bonacaro
Date Deposited: 01 Sep 2022 10:02
Last Modified: 01 Sep 2022 10:02

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