DISPLASIA CAMPOMÉLICA - Hospital Universitário Getúlio Vargas

displasia campomélica: relato de caso e revisão bibliográficade idade da criança com escoliose varia entreum e 4,5 anos. 6,13 A revisão desses casos nãotem mostrado uniformidade no tratamentoda patologia. O tratamento definitivo daluxação do quadril está sempre indicado,inicialmente, de forma conservadora, equando resistentes devem ser tratados comcirurgia. Concluímos que é essencial oacompanhamento ortopédico da criança comdisplasia campomélica por longo tempo porconta do potencial aparecimento dedeformidades principalmente na colunavertebral e agravamento das outrasdeformidades previamente existentes. Amelhora nos cuidados neonatal eacompanhamento multidisciplinar justificama sobrevida desse paciente.ReferênciaBaalbaky I, Manouvrier S, Dafour P, DevismesL, Delzenne A, Boute O, Peuch F. Prenataldiagnosis of osteogenesis imperfecta. J.Gynecol Obstet Biol Reprod. Paris (France).1998;27(1):44-51.Bain AD, Barret HS. Congenital bowing of thelong bones: Report of a case. Arch Dis Child.1959;3-4:516-542.Berndt KJ, Seiler R, Pfeiffer RA [Thecampomelic syndrome (author’s transl)].Monalsschr Kinderheilkd (Germany, West).Feb. 1976;124(2):93-5.Thong MK, Scherer G, Kozlowski K, Haan E,Morris L. Acampomelic campomelic dysplasiawith SOX9 mutation. Am J. Med Genet.2000;93:421-425.Spranger J, Langer LO, Maroteaux P. Increasingfrequency of a syndrome of multiple osseousdefects, Lancet. 1970;2:716.Coscia MF, Basset GS, Bowen JR et. al. Spineabnormalities in campomelic dysplasia. J.Pediatr Orthop. 1989;9:6-14.Ruan L, Mitchell RB, Pereira KD, YounisRT, Lazar RH. Campomelic syndromelaryngotracheomalaciatreated with singlereconstruction Int. J. Pediatr Otorhinolaryngol(Ireland). Nov. 1996;37(3):277-81.Redon JY, Le Grevellec JY, Marie F, Le Coq E,Le Guen H. Prenatal diagnosis of campomelicdysplasia. J. Gynecol Obstet Biol Reprod.Paris (France). 1984;13(4):413-41.Fryns JP, Annicq P, Ultrix M, Van den BergheH. Congenital bowing of the long bones.An example of a campomelic syndrome ofthe short-limbed normocephalic subtype.Acta Paediatr Scand (Sweden). Sep.1983;72(5):789-91.Gargian KV, Pretorius DH, Budorick NE, et. al.Fetal skeletal dysplasia: Three-dimensionalultrasound: Initial experience, 2000; Radiol.214:717-723.Gendall PW; Kozlowski KO. To-palato-digitalsyndrome type II. Report of two related casesPediatric Radiol (Germany). 1992;22(4):267-9.Giordano J, Prior HM, Bamforth JS, Walter MA.Genetic study of SOX9 in case of campomelicdysplasia. Am J. Med Genet (United States).Jan. 15, 2011;98(2):176-81.Ray S, Bowen JR. Orthopaedic problemsassociated with survival in campomelicdysplasia Clin Orthop (United States). May.1984;(185):77-82.Hall BD, Spranger JW. Campomelic dysplasia:Further elucidation of a distinct entity. Am.J. Dis Child. 1980;134:285-289.Houston CS, Opitz JM, Spranger JW et. al.The campomelic dysplasia syndrome: Reviewof 17 cases, and follow-up on the currently17-years-old boy first reported by Maroteauxet al in 1971. Am J. Med Genet. 1983;15:3-28.Khajavi A, Lanchman R. Rimoin D et. al.Heterogeneity in the campomelic syndrome:Long and short-bone varieties. Radiology.1976;120:641-647.Petronius DH, Rumack CM, Manco-JohnsonML, Manchester D, Meier P, Bramble J, ClewellW. Specific skeletal dysplasias in utero:sonographic diagnosis Radiology (UnitedStates). Apr. 1986;159(1):237-242.28revistahugv - Revista do Hospital Universitário Getúlio Vargasv.10. n. 2 jul./dez. – 2011