Shprintzen-Goldberg syndrome

Abstract

The Shprintzen-Goldberg syndrome is an extremely rare disorder of the connective tissue, characterized by Marfanoid bodily habitus, craniosynostosis with peculiar facies and skeletal alterations associated with intellectual disability. This study presents the case of a 14-year-old girl who was born with several malformations: Marfanoid bodily habitus, craniosynostosis, multiple skeletal alterations including arachnodactyly, absence of subcutaneous fat and peculiar facies. After several radiological tests compared in time and to other similar cases, considering the absence of cardiovascular conditions and with only one school delay, a malformative and dysmorphological sequence was considered that was finally defined clinically as the malformative Shprintzen-Goldberg syndrome.

Keywords

• syndrome
• congenital abnormalities
• genetic diseases, inborn