Shprintzen Goldberg syndrome: a classic case

Anant Goyal; Ankush Sharma; Neha Kumari; Muneer Ahmad

doi:10.18203/2349-3291.ijcp20261549

Authors

Anant Goyal Department of Paediatrics, Al Falah School of Medical Sciences and Research Centre, Faridabad, Haryana, India
Ankush Sharma Department of Paediatrics, Al Falah School of Medical Sciences and Research Centre, Faridabad, Haryana, India
Neha Kumari Department of Paediatrics, Al Falah School of Medical Sciences and Research Centre, Faridabad, Haryana, India
Muneer Ahmad Department of Paediatrics, Al Falah School of Medical Sciences and Research Centre, Faridabad, Haryana, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20261549

Keywords:

Craniosyanostosis, Marfanoid features, Arachnodactly, Pectus excavatum, Mitral valve involvement, Septal defects

Abstract

Shprintzen Goldberg syndrome (SGS) is an uncommon genetic condition marked by a mix of craniofacial, skeletal, and cardiovascular abnormalities. This syndrome was initially detailed in 1984 by Dr. Shprintzen and Dr. Goldberg, as a distinct clinical condition. Since then, only a small number of cases have been reported in literature. A total of just 50 instances of SGS have been documented globally. A 6 months old male child presented with Acute respiratory illness. On examination child had marked failure to thrive features with Marfaniod habitus along with craniosynostosis, low set ears, prominent eyes, small lower jaw, long, slender fingers, joint hypermobility, high arched palate, flat feet and developmental delay. Supportive management of active complaints was done given but patient has poor prognosis. Our patient came as a case of acute respiratory infection but on examination had typical features consistent with SGS and on further investigations Genotype was found to have SKI mutation and on ECHO patient had Mitral valve involvement. All this led us to the rare diagnosis of SGS.

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