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Orthognathic Surgery in Pycnodysostosis: a Case Report

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Orthognathic Surgery in Pycnodysostosis: a Case Report 110 Herna´ndez-Alfaro et al. Case Report Congenital Craniofacial Deformities F. Herna´ndez-Alfaro1, J. Arenaz Bu´ a2, M. Serra Serrat3, Orthognathic surgery in J. Mareque Bueno1 1Department Oral and Maxillofacial Surgery Teknon Medical Center, Barcelona, Spain; pycnodysostosis: a case report 2Department of Oral and Maxillofacial Surgery, Complejo Hospitalario Universitario de A Corun˜a, Spain; 3Orthodontist, Barcelona, Spain F. Herna´ndez-Alfaro, J. Arenaz Bu´a, M. Serra Serrat, J. Mareque Bueno: Orthognathic surgery in pycnodysostosis: a case report. Int. J. Oral Maxillofac. Surg. 2011; 40: 106–123. # 2010 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved. Abstract. Pycnodysostosis is an extremely rare genetic osteosclerosis caused by cathepsin K deficiency. It is a human autosomal recessive genetic disorder characterized mainly by osteosclerosis of the skeleton due to decreased bone turnover. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis. Multiple fractures of the long bones and osteomyelitis of the jaw are frequent complications. The authors describe an 18-year-old girl with a clinical and radiological diagnosis of pycnodysostosis and the ortho-surgical treatment undertaken. Bimaxillary orthognathic surgery was carried out using rigid fixation and bone grafts. The authors recommend bimaxillary orthognathic surgery as a choice for treating the dentofacial deformities of pycnodysostosis, emphasizing the good and stable results Accepted for publication 19 July 2010 obtained in terms of facial aesthetics and occlusion. Available online 21 August 2010 Pycnodysostosis is a rare osteopetrotic nodysostosis are abnormally dense and narrowing of the airway1–3,5–7,10. Dental clinical entity. It belongs to the group of brittle as a result of this insufficient re- crowding, dental abnormalities and craniotubular bone dysplasias, first absorption process5,9. Pycnodysostosis is impaction are observed, as well as altera- described in 1962 by Maroteaux and Lamy usually diagnosed at an early age due to tions in eruption1–3,6. as a form of dwarfism with craniofacial the typical phenotype with proportionate The diagnosis of pycnodysostosis is pri- malformation similar to cleidocranial dys- dwarfism and peculiar facies1,3,5,6.The marily based on clinical features and radio- plasia1,5–7,10. The disease has also been diagnosis is sometimes made late, as a graphs, but the confirmatory test is a called Toulouse-Lautrec syndrome, after result of high susceptibility to long bone cathepsin K gene mutation analysis. Other the French artist Henri de Toulouse- fractures and infections, because of the uncommon clinical disorders of reduced Lautrec who suffered from the disease1. severe bone fragility resulting from bone resorption include osteopetrosis, osto- Pycnodysostosis has an autosomal reces- increased bone density and impaired genesis imperfecta, cleidocranial dysplasia sive inheritance1–10 and is characterized bone vascularity1–10. and idiopathic acroosteolysis1,5. In osteo- by systemic high bone density due to Extragnathic skeletal involvement petrosis, the bone marrow may be absent so decreased bone turnover1–7,9. In the includes short stature, clavicular and cra- hematopoietic alterations are common. 1990s, the defective gene responsible for niofacial dysplasia, total or nearly total Signs of compression of the cranial nerves pycnodysostosis was located in chromo- phalangeal dysplasia and generally radio- include facial paralysis, deafness or pain. some Iq21, offering accurate diagnosis, graphic osteosclerosis. The acromial ends Cleidocranial dysplasia may seem like pyc- carrier testing and a more thorough under- of the clavicles may be aplastic1,2,5. This nodysostosis because it presents with agen- standing of this disorder1,3,5–7,10. Pycno- syndrome usually presents with typical esis or clavicular aplasia, and alterations of dysostosis represents a lysosomal storage craniomaxillofacial deformities, such as the skeletal bone membranes, however, disease of the bone caused by a mutation a dolicocephalic or brachiocephalic skull bone density is not increased. In idiopathic in the gene that codes the enzyme with prominent forehead, hypoplastic acroosteolysis, the appearance of the cathepsin K. This protease plays a major maxilla and mandible with micrognathia, patients is typical, with hypotelorism, role in osteoclast-driven bone resorp- and hypoplastic midface with exophthal- exophthalmos, and an upturned nose but tion6,7,9,10 and is responsible for degrad- mus, hypopneumatization of the maxillary increased bone density is not present1,9. ing collagen type 1, which constitutes sinuses, beaked nose, open and anterior The choice of surgical technique was 95% of the organic bone matrix1,9.The cross-bite, obtuse mandibular angle, difficult because the high risk of infection, bones in individuals afflicted with pyc- grooved palate, longer soft palate and secondary fractures and nonunion render Orthognathic surgery in pycnodysostosis 111 the classical choices of distraction and tomies, xenografts and rigid fixation with Postoperative recovery was uneventful iliac bone graft hazardous10. There have osteosynthesis material, because of the high and the patient was discharged 48 h after been few reports of rigid fixation of such risk of infection and nonunion as a result of surgery. A post-surgical cone beam CT dysplasic bone in the craniomaxillofacial the poor bone quality. For that purpose, a scan revealed adequate repositioning of area4,7,8,10. The purpose of this paper is to vertical and sagittal augmentation genio- the bony segments. The patient followed report bimaxillary orthognathic surgery plasty was carried out under general a liquid diet for 10 days and then a soft diet and bone grafting for treating the dento- anaesthesia with 8 mm advancement for 2 months.The postoperative orthodon- facial deformities of pycnodysostosis, and 7 mm downgrafting with interposi- tics lasted for 12 months and yielded a emphasizing the good and stable results tion of a bovine hydroxyapatite block functional class I occlusion with stable obtained in terms of facial aesthetics and (Bioss). Postoperative recovery and heal- periodontal parameters. A cone beam occlusion. ing was uneventful. scan, 24 months post-surgery, revealed After 14 months of presurgical ortho- stability of skeletal movements and ade- dontics the patient was considered ready quate consolidation at the osteotomies. Case report for bimaxillary surgery. The orthodontist Patient satisfaction with facial and occlu- The authors present the case of an 18- used skeletal anchorage to aid levelling. sal results was very high. As a result of her year-old girl who had been clinically and The preoperative work up included a cone high satisfaction level, orthodontics is still radiographically diagnosed with pycno- beam CT and conventional model surgery in progress due to low cooperation from dysostosis and referred to them for treat- with the generation of two surgical splints. the patient after surgery. She was able to ment. The cathepsin K gene mutation Surgery was performed under hypoten- resume her social life, which had been test was performed and confirmed the sive general anaesthesia. The chin plate was severely compromised (Fig. 2). presence of the disease. removed at the time of orthognathic surgery The patient’s main complaints were her and excellent bone healing was observed. A facial appearance, occlusal alterations and mandibular advancement of 13 mm with Discussion snoring. Physical examination revealed a bilateral sagittal split osteotomies was per- severely distorted face as a result of ante- formed. A Le Fort I osteotomy followed Pycnodysostosis is a rare autosomal reces- roposterior and vertical maxillary and with maxillar advancement of 10 mm and sive disease. The incidence is estimated to mandibular hypoplasia. A severe short downgrafting of 8 mm. Rigid fixation was be 1.7 per 1 million births1,2,5,10. Multiple face was accompanied by a relative rhi- achieved with four miniplates in the max- fractures of long bones and osteomyelitis, nomegaly. A class II occlusion was pre- illa and four more in the mandible. Two stridorous breathing and snoring due to a sent (Fig. 1). Other findings included short plates on each mandibular osteotomy were narrow chest and airway are frequent com- 5,6,10 6 stature and clavicular and phalangeal dys- used to hold the advancement and to pro- plications .MUTO et al. reported pyc- plasia. A cone beam CT scan revealed vide enough stability. Interpositional nodysostosis presenting as severe snoring, severely distorted facial architecture with blocks of Bioss were placed in the gaps caused by pharyngeal narrowing in two abnormally small facial bones. both at the Le Fort I and the sagittal split. An siblings. Cephalograms3,6 showed pharyn- Treatment began with fixed orthodon- open reduction rhinoplasty with dorsal, alar geal narrowing at the level of the soft tics to achieve enough alignment to allow and septal reduction was performed. No palate and the base of the tongue caused for further orthognathic surgery. postoperative intermaxillary fixation was by the long soft palate and mandibular Test surgery was carried out to evaluate applied apart from two light box elastics hypoplasia. They suggested that respira- the patient’s bone response to facial osteo- to guide mandibular movements. tory insufficiency, such as snoring or
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