期刊
CHILDREN-BASEL
卷 9, 期 9, 页码 -出版社
MDPI
DOI: 10.3390/children9091290
关键词
Loeys-Dietz syndrome; cleft palate; aortic dilatation; genetic syndrome
类别
资金
- Dept. of Medical and Surgical Sciences of the University of Foggia
Loeys-Dietz syndrome is a rare genetic disorder with diverse manifestations, diagnosis relies on genetic testing, and early diagnosis is crucial for prognosis.
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.
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