Choi Jamie H, Li Rachel, Gannaway Rachel, Causey Tahnee N, Harrison Anna, Couser Natario L
Virginia Commonwealth University School of Medicine, Richmond, VA, USA.
Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.
Case Rep Genet. 2020 Aug 19;2020:7353452. doi: 10.1155/2020/7353452. eCollection 2020.
Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the proto-oncogene gene, a known suppressor of TGF- activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys-Dietz syndromes. Common clinical features of SGS include craniosynostosis, marfanoid habitus, hypotonia, dysmorphic facies, cardiovascular anomalies, and other skeletal and connective tissue abnormalities. Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis. We describe a 25-year-old male with the syndrome. Genetic analysis revealed a novel c.350G>A (p.Arg117His) variant, which was predicted to be pathogenic by the CTGT laboratory. The patient presented with dysmorphic features, marfanoid habitus, severe joint contractures, mitral valve insufficiency, aortic root dilatation, and a history of seizures. His ocular manifestations included hypertelorism, downslanting palpebral fissures, bilateral ptosis, and high myopia. Ophthalmic manifestations are an integral component of the syndrome; however, they have not been well characterized in the literature. From a systematic review of previously published cases to date, we summarize the eye and ocular adnexa manifestations reported.
施普林曾-戈德堡颅缝早闭综合征（SGS）是一种罕见的常染色体显性疾病，于1982年首次在文献中被记载。该疾病由原癌基因中的致病变异引起，该基因是位于1号染色体1p36上已知的转化生长因子（TGF）活性抑制因子。它与马凡综合征和洛伊迪茨综合征有相当多的表型重叠。SGS的常见临床特征包括颅缝早闭、马凡样体型、肌张力减退、面容畸形、心血管异常以及其他骨骼和结缔组织异常。眼部表现可能包括眼距过宽、睑裂向下倾斜、眼球突出、近视和晶状体异位。我们描述了一名患有该综合征的25岁男性。基因分析发现了一种新的c.350G>A（p.Arg117His）变异，CTGT实验室预测该变异具有致病性。该患者表现出畸形特征、马凡样体型、严重关节挛缩、二尖瓣关闭不全、主动脉根部扩张以及癫痫病史。他的眼部表现包括眼距过宽、睑裂向下倾斜、双侧上睑下垂和高度近视。眼部表现是该综合征不可或缺的一部分；然而，它们在文献中尚未得到充分描述。通过对迄今为止已发表病例的系统综述，我们总结了所报道的眼部及眼附属器表现。
