title: Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child.
abstract: Shprintzen-Goldberg syndrome (S-G) is a rare connective tissue disorder characterised by craniosynostosis, craniofacial dysmorphism, skeletal, cardiovascular, neurological, and other abnormalities. We herein present a case of a five-year-old Indian child who presented to our clinic with reducible umbilical hernia since birth, mental retardation, and delayed developmental milestones. After meticulous clinical examination with subsequent integration of clinical findings and investigations, we diagnosed her to possibly have Shprintzen-Goldberg syndrome. An attempt to compare the findings of our index case with the classical features as described by Greally et al. has been made. Given the rarity of this syndrome and the paucity of medical literature measuring the magnitude of this condition in the Indian population, this case serves to promote awareness of this rare entity.
authors.affiliation: Department of General Surgery, Rural Medical College, Pravara Institute of Medical Sciences, Loni, MH 413736, India ; Contributed equally to the work.
authors.forename: Bhushan
authors.initials: B
authors.lastname: Shah
authors.affiliation: Hebei Medical University, Shijiazhuang, Hebei, China 050017 ; Contributed equally to the work.
authors.forename: Suman
authors.initials: S
authors.lastname: Sahu
authors.affiliation: Department of General Surgery, Rural Medical College, Pravara Institute of Medical Sciences, Loni, MH 413736, India.
authors.forename: Piyush
authors.initials: P
authors.lastname: Kalakoti
authors.affiliation: Department of General Surgery, Rural Medical College, Pravara Institute of Medical Sciences, Loni, MH 413736, India.
authors.forename: Sankalp
authors.initials: S
authors.lastname: Yadav
authors.affiliation: Department of General Surgery, Rural Medical College, Pravara Institute of Medical Sciences, Loni, MH 413736, India.
authors.forename: M M Aarif
authors.initials: MM
authors.lastname: Syed
authors.affiliation: Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai.
authors.forename: Venugopal Brijmohan
authors.initials: VB
authors.lastname: Bhattad
authors.affiliation: Department of General Surgery, Rural Medical College, Pravara Institute of Medical Sciences, Loni, MH 413736, India.
authors.forename: Meena
authors.initials: M
authors.lastname: Shaikh
keywords: Indian; Shprintzen-Goldberg syndrome; craniosynostosis; marfanoid habitus; umbilical hernia