title: The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature.
abstract: Frontonasal dysplasia is defined as hypertelorism, telecanthus and broad bridge of the nose with absent or bifid tip of the nose. The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, mental retardation, blindness, and cleft lip and cleft palate are discussed. The contemporary literatures on this rare congenital anomaly are also reviewed.
authors.affiliation: Department of Otolaryngology, Port Moresby General Hospital, Papua New Guinea.
authors.forename: S P
authors.initials: SP
authors.lastname: Dubey
authors.forename: J P
authors.initials: JP
authors.lastname: Garap
mesh_terms: D001766:Blindness / Q000150:complications*; D002648:Child; D002971:Cleft Lip / Q000150:complications; D002972:Cleft Palate / Q000150:complications; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D010264:Paraplegia / Q000150:complications*; D013577:Syndrome; D014057:Tomography, X-Ray Computed