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ITALIAN JOURNAL OF MAXILLOFACIAL SURGERY
Rivista di Chirurgia Maxillo-Facciale
Official Journal of the Italian Society of Maxillofacial Surgery
Italian Journal of Maxillofacial Surgery 2009 December;20(3):185-9
Shprintzen-Goldberg syndrome: clinical experience and review of the literature
Mustazza M. C., Pagnoni M., Iannetti G., Fadda M. T.
Department of Maxillo Facial Surgery, Umberto I Policlinic, La Sapienza University, Rome, Italy
Shprintzen-Goldberg syndrome (SGS) is a craniofacial malformation featuring craniosynostosis, skeletal anomalies with marfanoid habitus, mental retardation, Hirschsprung disease, and cardiac defects. The etiology of Shprintzen-Goldberg syndrome is still unknown. The aim of this manuscript was to report on a new sporadic case confirming the existence of this syndrome and expanding the clinical phenotype.