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<p>Shprintzen-Goldberg syndrome is a rare entity attributed to <i>SKI</i> gene variants. It is characterized by facial dysmorphism, craniosynostosis, and abnormalities in musculoskeletal, cardiovascular, and neurodevelopmental systems. The musculoskeletal features share similarities with Marfan syndrome. Cardiovascular manifestations have also been likened to Loeys-Dietz and Marfan syndromes. The index case presented with characteristic orthopedic features (scoliosis, arachnodactyly, marfanoid habitus), mild intellectual disability and cardiac defects. Echocardiography identified an atrial septum defect (ASD) with tricuspid and mitral valve prolapse and regurgitation. An initial clinical diagnosis of Marfan syndrome was made. However, whole-exome sequencing revealed a novel pathogenic variant of the <i>SKI</i> gene, clinching the diagnosis of Shprintzen-Goldberg syndrome. The said case was unique in terms of absence of craniosynostosis, and presence of Tricuspid regurgitation which is also a relatively uncommon cardiac defect associated with the Shprintzen-Goldberg syndrome.</p>

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Unveiling a novel pathogenic SKI variant in a child with Shprintzen Goldberg syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月23日

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  • Payal Mittal,
  • Ritika Singh,
  • Kapil Bhalla

摘要

Shprintzen-Goldberg syndrome is a rare entity attributed to SKI gene variants. It is characterized by facial dysmorphism, craniosynostosis, and abnormalities in musculoskeletal, cardiovascular, and neurodevelopmental systems. The musculoskeletal features share similarities with Marfan syndrome. Cardiovascular manifestations have also been likened to Loeys-Dietz and Marfan syndromes. The index case presented with characteristic orthopedic features (scoliosis, arachnodactyly, marfanoid habitus), mild intellectual disability and cardiac defects. Echocardiography identified an atrial septum defect (ASD) with tricuspid and mitral valve prolapse and regurgitation. An initial clinical diagnosis of Marfan syndrome was made. However, whole-exome sequencing revealed a novel pathogenic variant of the SKI gene, clinching the diagnosis of Shprintzen-Goldberg syndrome. The said case was unique in terms of absence of craniosynostosis, and presence of Tricuspid regurgitation which is also a relatively uncommon cardiac defect associated with the Shprintzen-Goldberg syndrome.