Picnodisostosis: Reporte de un caso

Abstract

Pyknodysostosis is a syndrome described for the first time by Maroteux and Lamy in 1962, Andren independently described and defined this syndrome, which is manifested by dwarfism, osteopetrosis, shortened terminal phalanges and cranial anomalies. The oral manifestations include a grooved palate, soft lengthened palate with low implanted uvula, packing, premature or slow eruption, hypoplasia of the enamel and periodontitis. A clinical case of a 16 year-old boy affected with the pycnodysostosis syndrome is presented, who has a family history of three affected siblings with the same affliction. Oral rehabilitation was carried out with amalgams, he was given brushing technique as a preventive method. A referral was sent to the service of orthodontics and periodontics at the same institution, since he presented malocclusion and periodontal problems. This is an entity of unknown origin with few mentions in the current literature and few reported cases. This patient with the typical clinical manifestations presents clinical data detected for the first time in this syndrome. It is unclear if this data will have to be considered as part of the syndrome or if we are dealing with an associated pathology not yet discovered in this patient. Dentists should be aware of the possible manifestations of this rare syndrome.