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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.

SUBMITTER: Shah B

PROVIDER: S-EPMC3941576 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child.

Shah Bhushan B Sahu Suman S Kalakoti Piyush P Yadav Sankalp S Syed M M Aarif MM Bhattad Venugopal Brijmohan VB Shaikh Meena M

The Australasian medical journal 20140228 2

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 diag ...[more]

PMID: 24611072

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