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.

Cleft Palate and Aortic Dilatation as Clues for Loeys-Dietz Syndrome / Zaza, P; Indrio, F; Fracchiolla, A; Rinaldi, M; Meliota, G; Salatto, A; Bonacaro, A; Maffei, G. - In: CHILDREN. - ISSN 2227-9067. - 9:9(2022), pp. 1-9. [10.3390/children9091290]

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

Bonacaro, A
Writing – Review & Editing
;
2022-01-01

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.
2022
Cleft Palate and Aortic Dilatation as Clues for Loeys-Dietz Syndrome / Zaza, P; Indrio, F; Fracchiolla, A; Rinaldi, M; Meliota, G; Salatto, A; Bonacaro, A; Maffei, G. - In: CHILDREN. - ISSN 2227-9067. - 9:9(2022), pp. 1-9. [10.3390/children9091290]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2959854
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