Valenzuela Irene, Fernández-Alvarez Paula, Munell Francina, Sanchez-Montanez Angel, Giralt Gemma, Vendrell Teresa, Tizzano Eduardo F
Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d'Hebron, CIBERER, Barcelona, Spain.
Neuropediatrics Service, University Hospital Vall d'Hebron, Barcelona, Spain.
Eur J Med Genet. 2017 Jun;60(6):303-307. doi: 10.1016/j.ejmg.2017.03.010. Epub 2017 Mar 24.
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized mainly by cardiovascular, craniofacial and skeletal features. We report on a patient with LDS, whose prenatal examination was compatible with the diagnosis of arthrogryposis multiplex congenita. Neonatal assessment showed craniofacial and cardiovascular findings suggestive of LDS whose diagnosis was confirmed by the detection of a novel mutation (HGVN: NM_003242.5 (TGFBR2): c.1381T > C (p.(Cys461Arg))) in the TGFBR2 gene. Few prenatal and neonatal cases of LDS have been reported in the literature. We reviewed all cases reported to date with perinatal onset to delineate the clinical manifestations that allow us to prompt diagnosis of this syndrome at an early stage to prevent fatal cardiovascular complications. Furthermore we discuss the multidisciplinary follow up required in these patients.
洛伊氏综合征（LDS）是一种常染色体显性遗传性结缔组织疾病，主要特征为心血管、颅面及骨骼方面的异常。我们报告了一名患有LDS的患者，其产前检查结果与先天性多发性关节挛缩症的诊断相符。新生儿评估显示出颅面及心血管方面的表现提示LDS，通过在转化生长因子β受体2（TGFBR2）基因中检测到一个新的突变（HGVN：NM_003242.5（TGFBR2）：c.1381T>C（p.（Cys461Arg）））确诊。文献中报道的产前及新生儿期LDS病例较少。我们回顾了所有已报道的围产期发病病例，以明确那些能使我们在早期阶段及时诊断该综合征从而预防致命心血管并发症的临床表现。此外，我们还讨论了这些患者所需的多学科随访。
