title: Cephalometric characteristics and dentofacial abnormalities of pycnodysostosis: report of four cases from Brazil.
abstract: Pycnodysostosis (PKND) is a human autosomal recessive genetic disorder characterized mainly by osteosclerosis of the skeleton, severe bone fragility, and short stature. This syndrome usually presents very typical craniofacial deformities, such as beaked nose, micrognathia, hypoplastic midface, open mouth posture, grooved palate, anterior cross-bite, dental crowding, and over-retained deciduous teeth. Early diagnosis and intervention are of the utmost importance. Four cases from the northeast of Brazil are reported including 2 siblings. Features included maxillary retrusion, reduced facial height, open bite, and bone fracture history. Very poor oral hygiene, severe dental caries, and periodontal disease were also present.
authors: Department of Clinical Dentistry, Federal University of Ceará, Fortaleza-Ce, Brazil. cfontele@ufc.br
authors: Cristiane Sá Roriz
authors: CS
authors: Fonteles
authors: Cauby Maia
authors: CM
authors: Chaves
authors: Adriana
authors: A
authors: Da Silveira
authors: Eduardo Costa Studart
authors: EC
authors: Soares
authors: José Luciano Pimenta
authors: JL
authors: Couto
authors: Maria de Fátima Vitoriano
authors: Mde F
authors: de Azevedo
mesh_terms: D000293:Adolescent; D000328:Adult; D000402:Airway Obstruction / Q000209:etiology; D000848:Anodontia / Q000209:etiology; D001938:Brazil; D002508:Cephalometry / Q000706:statistics & numerical data*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D003731:Dental Caries / Q000209:etiology; D004413:Dysostoses / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D050723:Fractures, Bone / Q000209:etiology; D006801:Humans; D007569:Jaw Abnormalities / Q000000981:diagnostic imaging / Q000209:etiology*; D008297:Male; D008310:Malocclusion / Q000000981:diagnostic imaging / Q000209:etiology*; D010510:Periodontal Diseases / Q000209:etiology; D011859:Radiography; D013577:Syndrome