We report on a 2-year-old Polish girl with typical manifestations of Loeys-Dietz syndrome (LDS), a rare genetic condition belonging to the group of Marfan-related disorders. The characteristic LDS symptoms observed in the girl included craniofacial dysmorphism (craniosynostosis, cleft palate, hypertelorism), arachnodactyly, camptodactyly, scoliosis, joint laxity, talipes equinovarus, translucent and hyperelastic skin, and umbilical hernia. Mild dilatation of the ascending aorta and tortuous course of the left internal carotid artery were recognized during her second year of life. Molecular genetic testing revealed a heterozygous missense mutation (c.1582C>T, p.R528C) in the transforming growth factor beta receptor II gene (TGFBR2). This mutation has been previously associated with LDS in 5 unrelated cases, and was never reported in patients with other Marfan-related disorders. Comparison of the phenotypes of our patient and these 5 individuals with c.1582C>T showed that only the hallmark triad of the syndrome — consisting of hypertelorism, aortic root dilatation/aneurysm, and cleft palate or bifid uvula — was present in all 6 cases. Interestingly, none of the 5 individuals who underwent psychological evaluation showed developmental delay. The pattern of all other LDS features showed interindividual variability. Our data support the recently reported observation that symptoms of LDS can develop at a very young age, making early diagnosis and management essential for these patients. This is the first report on a Polish infant with typical LDS symptoms caused by aTGFBR2 mutation.

中文翻译：

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由于 TGFBR2 基因中 p.R528C 反复突变导致的早发性 Loeys-Dietz 综合征的新散发病例证实了个体间的临床变异性。

我们报告了一名 2 岁波兰女孩，她有 Loeys-Dietz 综合征 (LDS) 的典型表现，这是一种属于马凡相关疾病组的罕见遗传病。在女孩身上观察到的特征性 LDS 症状包括颅面畸形（颅缝早闭、腭裂、眼距过长）、蛛形指、弯曲指、脊柱侧弯、关节松弛、马蹄内翻、半透明和超弹性皮肤以及脐疝。在她出生后的第二年发现升主动脉轻度扩张和左颈内动脉曲折。分子遗传学检测显示，转化生长因子 β 受体 II 基因 ( TGFBR2）。这种突变以前在 5 个无关病例中与 LDS 相关，并且从未在患有其他马凡相关疾病的患者中报道过。比较我们的患者和这 5 名 c.1582C>T 个体的表型显示，所有 6 例病例仅存在该综合征的标志性三联征——包括眼距过宽、主动脉根部扩张/动脉瘤、腭裂或悬雍垂分叉. 有趣的是，接受心理评估的 5 个人中没有一个表现出发育迟缓。所有其他 LDS 特征的模式显示出个体差异。我们的数据支持最近报道的观察结果，即 LDS 的症状可以在很小的时候出现，因此对这些患者进行早期诊断和管理至关重要。这是波兰婴儿的第一份报告，该婴儿患有典型的 LDS 症状。TGFBR2突变。