The Shprintzen-Goldberg syndrome is an extremely rare syndrome with a characteristic facial and skeletal features. It is one of the group of disorders characterized by craniosynostosis and marfanoid features. This syndrome is an autosomal dominant disorder with multiple congenital abnormalities. It is the result of de novo gene mutations. Recently, mutations in the SKI gene are considered to be related to this rare entity. This gene is responsible for the manufacturing of protein which regulates the transforming growth factor beta (TGF-β) signaling pathway.
There are characteristic craniofacial, skeletal, neurological, and connective tissue abnormalities associated with SGS. This is a case report of an 12 year-old female child who has reported to the Department of Pediatric and preventive Dentistry of HP Government Dental College and Hospital, Shimla Himachal Pradesh, India, with her decayed teeth. She had craniofacial, skeletal, cardiovascular, and other abnormalities suggestive of SGS.
The patient had a tall forehead with plagiocephaly and a high-arched palate with hypoplastic teeth and ears were apparently low-set with posterior rotation and she had eyes with proptosis, myopia, hypertelorism, and down-slanting palpebral fissures. The patient did not show signs of mental retardation but craniofacial features were typical of this syndrome. The Shprintzen-Goldberg syndrome has many similarities with the Marfan syndrome (MFS) or the Loeys-Dietz syndrome (LDS) due to considerable phenotypic overlapping.
The aim of present case report is to highlight the features of this rare syndrome with peculiar findings at the oro- mandibulo-facial region.