Shprintzen–Goldberg syndrome with plagiocephaly: A case report

Abstract

The Shprintzen-Goldberg syndrome (SGS) 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 syndrome. 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 a 6-year-old male child who reported to the Department of Pediatric Dentistry at the Government Dental College and Hospital, Aurangabad, India, with decayed teeth. He 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. His ears were apparently low-set with posterior rotation. The child had eyes with proptosis, myopia, hypertelorism, and down-slanting palpebral fissures. The child had moderate mental retardation with craniofacial features 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.