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Case Reports
. 2022 Aug 26;9(9):1290.
doi: 10.3390/children9091290.

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

Pierluigi Zaza  1 , Flavia Indrio  2 , Annalisa Fracchiolla  1 , Matteo Rinaldi  1 , Giovanni Meliota  3 , Alessia Salatto  4 , Antonio Bonacaro  5 , Gianfranco Maffei  1
Affiliations
Case Reports

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

Pierluigi Zaza et al. Children (Basel). .

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.

Keywords: Loeys–Dietz syndrome; aortic dilatation; cleft palate; genetic syndrome.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Cleft palate.
Figure 2
Figure 2
The cranial ultrasound shows gross cysts in the frontal horn of both lateral ventricles and small germinolytic cysts in the subependymal area. The former are probably cystic conversion of periventricular leukomalacia subsequently merged in the frontal horns (Destra stand for Right).
Figure 3
Figure 3
The echocardiography shows a wide dilatation of the aortic root with normal annulus and ascending aorta. The aortic valve was continent with preserved ventricular function and no additional intracardiac defects.
Figure 4
Figure 4
The angio-CT shows clearly an ectatic aortic root with an elongated transverse arch and descending aorta. The major superior aortic branches were tortuous (F stand for front).
Figure 5
Figure 5
The brain MRI reveals a signal impairment in the para- and periventricular white matter, reduced thickness of the corpus callosum, and slight bulge of the lateral ventricles. A mild expansion of the periventricular spaces was found particularly in the temporomandibular region, with a contextual subarachnoid cyst.
See this image and copyright information in PMC

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