Abstract
Freeman-Sheldon syndrome (FSS), as first described by Freeman and Sheldon in 1938, is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. It is part of the nosologic group of pathologies currently known as distal arthrogryposis as reported by Hall et al. (Am J Med Genet 11:185–239, 1982 [1]). It is a rare disorder and its exact prevalence is unknown. Our objective is to report a case of FSS presenting with microstomia and add a brief review of the literature for similar cases.
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References
Hall JG, Reed SD, Greene G (1982) The distal arthrogryposes: delineation of new entities-review and nosologic discussion. Am J Med Genet 11:185–239
Freeman EA, Sheldon JH (1938) Cranio-carpo-tarsal dystrophy: undescribed congenital malformation. Arch Dis Child 13:277–283
James W, Berger T, Elston D (2005) Andrews’ diseases of the skin: clinical dermatology, 10th edn. Philadelphia, Saunders
Online ‘Mendelian Inheritance in Man’ (OMIM) 193700
Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ (2006) Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics 117(3):754–762. doi:10.1542/peds.2005-1219
Bamshad M, Jorde LB, Carey JC (1996) A revised and extended classification of the distal arthrogryposes. Am J Med Genet 65(4):277–281. doi:10.1002/(SICI)1096-8628(19961111)65:4<277:AID-AJMG6>3.0.CO;2-M
Fraser FC, Pashayan H, Kadish ME (1970) Cranio-carpo-tarsal dysplasia. Report of a case in father and son. JAMA 8:1374–1376
Klemp P, Hall JG (1995) Dominant distal arthrogryposis in a Maori family with marked variability of expression. Am J Med Genet 55:414–419
Temtany S, McKusick V (1978) Contracture deformities as a part of syndromes. Birth Defects Orig Artic Ser 3:447–449
Alves AFP, Azevedo ES (1977) Recessive form of Freeman-Sheldon’s syndrome or “whistling face”. J Med Genet 14:139–141
Dallapiccola B, Giannotti A, Lembo A, Sagui L (1989) Autosomal recessive form of whistling face syndrome in sibs. Am J Med Genet 22:542–544
Fitzsimmons JS, Zaldua V, Chrispin AR (1984) Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance. J Med Genet 21:364–368
Kousseff BG, McConnachie P, Hadro TA (1982) Autosomal recessive type of whistling face syndrome in twins. Pediatrics 69:328–331
Sanchez JM, Kaminker CP (1986) New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome. Am J Med Genet 25:507–511
Hall JG, Reed SD, Greene G (1982) The distal arthrogryposes: delineation of new entities—review and nosologic discussion. Am J Med Genet 11(2):185–239. doi:10.1002/ajmg.1320110208
Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ (2006) Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics 117:754–762
Antley RM, Uga N, Burzynski NJ, Baum RS, Bixler D (1975) Diagnostic criteria for the whistling face syndrome. Birth Defects Orig Artic Ser 11:161–168
Bamshad M, Jorde LB, Carey JC (1996) A revised and extended classification of distal arthrogryposis. Am J Med Genet 65:277–281
Toydemir PB, Toydemir R, Bokesoy I (1999) Whistling face phenotype without limb abnormalities. (Letter). Am J Med Genet 86:86–87
Bekir N, Bayraktaroglu YC, Coskun Y, Karaaslan C (1994) Whistling face (Freeman Sheldon) syndrome in two siblings. Turk J Pediatr 36:329–332
Vaitiekaitis AS, Hornstein L, Neale HW (1979) A new surgical procedure for correction of lip deformity in cranio-carpo-tarsal dysplasia (whistling face syndrome). J Oral Surg 37(9):669–672
Nara T (1981) Reconstruction of an upper lip and the coloboma in the nasal ala accompanying with Freeman-Sheldon syndrome. Nippon Geka Hokan 50(4):626–632
Ferreira LM, Minami E, Andrews Jde M (1994) Freeman-Sheldon syndrome: surgical correction of microstomia. Br J Plast Surg 47(3):201–202. doi:10.1016/0007-1226(94)90056-6
Malkawi H, Tarawneh M (1983) The whistling face syndrome or craniocarpotarsal dysplasia. Report of two cases in a father and son and review of the literature. J Pediatr Orthop 3(3):364–369
Call WH, Strickland JW (1981) Functional hand reconstruction in the whistling-face syndrome. J Hand Surg [Am] 6(2):148–151
Martini AK, Banniza von Bazan U (1983) Hand deformities in Freeman-Sheldon syndrome and their surgical treatment (in German). Z Orthop Ihre Grenzgeb 121(5):623–629. doi:10.1055/s-2008-1053288
Martini AK, Banniza von Bazan U (1982) Surgical treatment of the hand deformity in Freeman-Sheldon syndrome (in German). Handchir Mikrochir Plast Chir 14(4):210–212
Wenner SM, Shalvoy RM (1989) Two-stage correction of thumb adduction contracture in Freeman-Sheldon syndrome (craniocarpotarsal dysplasia). J Hand Surg [Am] 14(6):937–940. doi:10.1016/S0363-5023(89)80040-1
Sobrado CG, Ribera M, Marti M, Erdocia J, Rodriguez R (1994) Freeman-Sheldon syndrome: generalized muscular rigidity after anesthetic induction [in Spanish]. Rev Esp Anestesiol Reanim 41:182–184
Aldinger G, Eulert J (1983) The Freeman-Sheldon syndrome (in German). Z Orthop Ihre Grenzgeb 121(5):630–633. doi:10.1055/s-2008-1053289
Munro HM, Butler PJ, Washington EJ (1997) Freeman-Sheldon (whistling face syndrome). Anesthetic and airway management. Pediatr Anaesth 4:345–348
Robinson PJ (1997) Freeman-Sheldon syndrome: severe upper airway obstruction requiring neonatal tracheostomy. Pediatric Pulm 6:457–459
Jones R, Dolcourt JL (1992) Muscle rigidity following halothane anesthesia in two patients with Freeman-Sheldon syndrome. Anesthesiology 77:599–600
Cruickshanks GF, Brown S, Chitayat D (1999) Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway. Can J Anaesth 46(8):783–787. doi:10.1007/BF03013916
Namiki M, Kawamata T, Yamakage M, Matsuno A, Namiki A (2000) Anesthetic management of a patient with Freeman-Sheldon syndrome (in Japanese). Masui 49(8):901–902
Vas L, Naregal P (1998) Anaesthetic management of a patient with Freeman Sheldon syndrome. Paediatr Anaesth 8(2):175–177. doi:10.1046/j.1460-9592.1998.00676.x
Robbins-Furman P, Hecht JT, Rocklin M, Maklad N, Greenhaw G, Wilkins I (1995) Prenatal diagnosis of Freeman-Sheldon syndrome (whistling face). Pren Diagn 15:179–182
Ohyama K, Susami T, Kato Y, Amano H, Kuroda T (1997) Freeman-Sheldon syndrome. Case management from age 6 to 16 years. Cleft Palate Craniofac J 34:151–153
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Gurjar, V., Parushetti, A. & Gurjar, M. Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review. J. Maxillofac. Oral Surg. 12, 395–399 (2013). https://doi.org/10.1007/s12663-012-0392-4
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DOI: https://doi.org/10.1007/s12663-012-0392-4