Why the study?
Delay in diagnosis of Loeys–Dietz syndrome may lead to an adverse prognosis due to a very high risk of early complications such as aortic or vascular rupture.
Cleft palate and aortic root dilatation in a neonate can serve as early clinical clues for the diagnosis of Loeys-Dietz syndrome, potentially preventing early vascular complications.
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.
No takes yet. Share an insight, caveat, or question.
Zaza et al. (2022) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: