Scientific Bibliography

Last Modified: 20 May 2011

The following covers both Freeman-Sheldon and Sheldon-Hall syndromes. Some links to PubMed abstracts are provided.

Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB. Exome Sequencing Identifies an MYH3 Mutation in a Family with Distal Arthrogryposis Type 1. J Bone Joint Surg Am. 2011;93(11):1045-50.

Zhao N, Jiang M, Han W, Bian C, Li X, Huang F, Kong Q, Li J. A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. Eur J Med Genet. 2011;54(3):351-3.

Al-Haggar M, Yahia S, Damjanovich K, Ahmad N, Hamada I, Bayrak-Toydemir P. p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome. Indian J Pediatr. 2011;78(1):103-5.

Güven O, Tekin U, Hatipoğlu M. Surgical and prosthodontic rehabilitation in a patient with Freeman-Sheldon syndrome. J Craniofac Surg. 2010;21(5):1571-4.

Hegde SS, Shetty MS, Rama Murthy BS. Freeman-Sheldon syndrome--prenatal and postnatal diagnosis. Indian J Pediatr. 2010;77(2):196-7.

Al-Sajee DM, Habbal OA, Reyes ZS. Freeman-Sheldon syndrome with cerebral venous thrombosis: is it a coincidence? J Postgrad Med. 2010;56(1):37-9.  

Altunhan H, Annagür A, Ertuğrul S, Pekcan S, Ors R. Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report. Genet Couns. 2010;21(3):347-51.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. Targeted capture and massively parallel sequencing of 12 Hum exomes. Nature. 2009;461(7261):272-6.

Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. Clin Orthop Relat Res. 2009;467(5):1195-200.

Neumann A, Coetzee PF. Freeman-Sheldon syndrome: a functional and cosmetic correction of microstomia. J Plast Reconstr Aesthet Surg. 2009;62(5):e123-4.

Toydemir RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009;4:11.

Bluebond-Langner R, Zamani A, Rodriguez ED. Frontal bandeau reconstruction with a fibula flap in a patient with Freeman-Sheldon syndrome. J Craniofac Surg. 2009;20(1):256-8.

Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis anddevelopmental myosin myopathy that persists postnatally. Arch Neurol. 2008;65(8):1083-90. Erratum: Arch Neurol. 2008;65(12):1654.

Ferrari D, Bettuzzi C, Donzelli O. Freeman-Sheldon syndrome. A case report and review of the literature. Chir Organi Mov. 2008;92(2):127-31.

Richa FC, Yazbeck PH. Anaesthetic management of a child with Freeman-sheldon syndrome undergoing spinal surgery. Anaesth Intensive Care. 2008;36(2):249-53.

Fernández HJ, Capdevila LR. [Freeman-Sheldon's syndrome. Report of five cases]. Acta Ortop Mex. 2007;21(6):338-43. [Spanish]

Madi-Jebara S, El-Hajj C, Jawish D, Ayoub E, Kharrat K, Antakly MC. Anesthetic management of a patient with Freeman-Sheldon syndrome: case report. J Clin Anesth. 2007;19(6):460-2.

Jähne U, Büttner W, Jähne M. [Sudden decrease in vision in craniocarpotarsal dystrophy]. Ophthalmologe. 2007;104(7):598-600. [German]  

Arahori H, Tamura A, Wasada K, Shimoya K, Wada K, Murata Y, Ozono K. Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected. J Obstet Gynaecol Res. 2007;33(3):248-53.

Arora MK, Nagaraj G, Lakhe ST. Combined spinal-epidural anesthesia for a child with Freeman-Sheldon syndrome with difficult airway. Anesth Analg. 2006;103(6):1624.

Corrigan LA, Duncan CA, Gregg TA. Freeman-Sheldon syndrome: a case report. Int J Paediatr Dent. 2006;16(6):440-3.

Stein MH, Sorscher M, Caroff SN. Neuroleptic malignant syndrome induced by metoclopramide in an infant with Freeman-Sheldon syndrome. Anesth Analg. 2006;103(3):786-7.  

Vimercati A, Scioscia M, Burattini MG, Pontrelli G, Selvaggi LE. Prenatal diagnosis of Freeman-Sheldon syndrome and usefulness of an ultrasound fetal lip width normogram. Prenat Diagn. 2006;26(8):679-83.

Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006;38(5):561-5.

Shrimpton AE, Hoo JJ. A TNNI2 mutation in a family with distal arthrogryposis type 2B. Eur J Med Genet. 2006;49(2):201-6.

Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatr. 2006;117(3):754-62.

Mueller CC, Meyer CH. Distal arthrogryposis type 2A may be associated with juvenile glaucoma. Am J Med Genet A. 2005;139A(2):167-8.  

Wu SC, Chang ML. Freeman-Sheldon syndrome: report of one case. Acta Paediatr Taiwan. 2005;46(5):314-7.

Kim JS, Park SY, Min SK, Kim JH, Lee SY, Moon BK. Awake nasotracheal intubation using fiberoptic bronchoscope in a pediatric patient with Freeman-Sheldon syndrome. Paediatr Anaesth. 2005;15(9):790-2.

Chen A, Lai HY, Lee Y, Yang YL, Ho JS, Shyr MH. Anesthesia for Freeman-Sheldon syndrome using a folded laryngeal mask airway. Anesth Analg. 2005;101(2):614-5.  

Aviña Fierro J, Ornelas Sánchez M, Montes González S, Partida Rocha A. [Freeman-Sheldon syndrome. A case report]. Rev Med Inst Mex Seguro Soc. 2005;43(4):335-8. [Spanish]

Jangid S, Khan SA. Freeman-Sheldon syndrome. In Pediatr. 2005;42(7):717.

Mayhew JF. Freeman-Sheldon syndrome. Paediatr Anaesth. 2005;(5):438; author reply 438-9.  

Rajab A, Hoffmann K, Ganesh A, Sethu AU, Mundlos S. Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman. Am J Med Genet A. 2005;134A(2):151-7.

Roberts T, Stephen L, Naidoo T, Fieggen K, Beighton P. Freeman-Sheldon syndrome: dental and orthodontic implications. J Clin Pediatr Dent. 2005;29(3):267-71.

Buyukavci M, Tan H, Eren S, Balci S. A whistling face syndrome case with bilateral skin dimples. Genet Couns. 2005;16(1):71-3.

Aydin A, Ozden BC, Ozkan T. Surgical management of the hand in Freeman-Sheldon Syndrome. Ann Plast Surg. 2004;53(3):301-2.  

Agritmis A, Unlusoy O, Karaca S. Anesthetic management of a patient with Freeman-Sheldon syndrome. Paediatr Anaesth. 2004;14(10):874-7.

Pillukat T, Lanz U. [Congenital unilateral muscular hyperplasia of the hand - a rare malformation]. Handchir Mikrochir Plast Chir. 2004;36(2-3):170-8. [German]

Nargozian C. The airway in patients with craniofacial abnormalities. Paediatr Anaesth. 2004;14(1):53-9.

Tastekin A, Ikbal M, Ors R. Laryngomalacia, choanal atresia and renal anomaly in a newborn with Freeman-Sheldon syndrome phenotype. Genet Couns. 2004;15(3):383-6.  

Sung SS, Brassington AME, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad MJ. Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes. Am J Hum Genet. 2003;73:681-690.

Kalliainen LK, Drake DB, Edgerton MT, Grzeskiewicz JL, Morgan RF. Surgical management of the hand in Freeman-Sheldon syndrome. Ann Plast Surg. 2003;50(5):456-62; discussion 463-70.

Aren G, Yurdabakan Z, Ozcan I. Freeman-Sheldon syndrome: a case report. Quintessence Int. 2003;34(4):307-10.

Sung SS, Brassington AME, Krakowiak PA, Carey JC, Jorde LB, Bamshad MJ. Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B. Am J Hum Genet. 2003;73:212-214.

Al-Harthy A, Rayan GM. Congenital flexion deformity of the middle finger and sagittal band hypoplasia. J Hand Surg Am. 2003;28(1):123-9.

Okawa M, Kinouchi K, Kitamura S, Taniguchi A, Sasaoka N, Fukumitsu K. [Anesthetic management of an infant with Freeman-Sheldon syndrome]. Masui. 2002;51(6):659-62. [Japanese]

Senen D, Adanali G, Tuncel A, Yakut M, Erdogan B. Whistling face syndrome associated with camptodactyly. Ann Plast Surg. 2002;48(3):339-40.  

Alonso Calderón JL, Ali Taoube K. [Freeman-Sheldon syndrome: clinical manifestations and anesthetic and surgical management]. An Esp Pediatr. 2002;56(2):175-9. [Spanish]

Schefels J, Wenzl TG, Merz U, Ramaekers V, Holzki J, Rudnik-Schoeneborn S, Hermanns B, Hörnchen H. Functional upper airway obstruction in a child with Freeman-Sheldon syndrome. ORL J Otorhinolaryngol Relat Spec. 2002;64(1):53-6.

Carakushansky G, Paiva IS, Kahn E, Ribeiro MG. [Recessive type of Freeman-Sheldon syndrome - report of two affected siblings] J Pediatr (Rio J). 2001;77(5):425-30. [Portuguese]

Toydemir PB, Toydemir R, Bokesoy I. Whistling face syndrome with normal hands and feet. Am J Med Genet. 2001;102(2):215.  

Kawame H. [Cranio-carpo-tarsal dysplasia, whistling face type]. Ryoikibetsu Shokogun Shirizu. 2001;33:501-2. [Japanese]  

Kohyama J, Shiiki T. Sleep disordered breathing during REM sleep in Freeman-Sheldon syndrome. Acta Neurol Scand. 2000;102(6):395-7.

Namiki M, Kawamata T, Yamakage M, Matsuno A, Namiki A. [Anesthetic management of a patient with Freeman-Sheldon syndrome]. Masui. 2000;49(8):901-2. [Japanese]

Cappon SL, Duncan AM, Khalifa MM. Interstitial 6q duplication in an adult male without growth delay or severe mental retardation. Med Sci Monit. 2000;6(3):581-5.

Gorlin RJ. Whistling face syndrome with normal hands. Am J Med Genet. 2000;90(3):255.  

Kurokawa K, Sunada Y. [Freeman-Sheldon syndrome, whistling face syndrome]. Ryoikibetsu Shokogun Shirizu. 2000;30(5):12-4. [Japanese]  

Stoll C, Benoit F, Peter MO, Gasser B. Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence. Clin Dysmorphol. 1999;8(4):247-51.

Cruickshanks GF, Brown S, Chitayat D. Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway. Can J Anaesth. 1999;46(8):783-7.

Manji KP, Mbise RL. Generalised muscle hypertonia with mask-like face (Freeman-Sheldon syndrome) in a Tanzanian girl. Clin Genet. 1998;54(3):252-3.  

Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M. Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). Am J Med Genet. 1998;76(1):93-8.

Vas L, Naregal P. Anaesthetic management of a patient with Freeman Sheldon syndrome. Paediatr Anaesth. 1998;8(2):175-7.

Robinson PJ. Freeman Sheldon syndrome: severe upper airway obstruction requiring neonatal tracheostomy. Pediatr Pulmonol. 1997;23(6):457-9.

Ohyama K, Susami T, Kato Y, Amano H, Kuroda T. Freeman-Sheldon syndrome: case management from age 6 to 16 years. Cleft Palate Craniofac J. 1997;34(2):151-3.

Krakowiak PA, O'Quinn JR, Bohnsack JF, Watkins WS, Carey JC, Jorde LB, Bamshad M. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet. 1997;60(2):426-32.

Munro HM, Butler PJ, Washington EJ. Freeman-Sheldon (whistling face) syndrome. Anaesthetic and airway management. Paediatr Anaesth. 1997;7(4):345-8.

Ortega JP, García-Enguita MA, Arauzo P, Laglera S, Martínez-Ubieto J, Urieta A. [Anesthesia in a case of Freeman-Sheldon syndrome]. Rev Esp Anestesiol Reanim. 1996;43(4):152-3. [Spanish]  

Zampino G, Conti G, Balducci F, Moschini M, Macchiaiolo M, Mastroiacovo P. Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss. Am J Med Genet. 1996;62(3):293-6.

Song HR, Sarwark JF, Sauntry S, Grant J. Freeman-Sheldon syndrome (whistling face syndrome) and cranio-vertebral junction malformation producing dysphagia and weight loss. Pediatr Neurosurg. 1996;24(5):272-4.

Sener RN. Whistling face syndrome: MR imaging findings in the brain. Eur Radiol. 1996;6(1):102-4.

Rabb MF, Minkowitz HS, Hagberg CA. Blind intubation through the laryngeal mask airway for mangement of the difficult airway in infants. Anesthesiology. 1996;84(6):1510-1.

Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the distal arthrogryposes. Am J Med Genet. 1996;65:277-81.

Bamshad M, Bohnsack JF, Jorde LB, Carey JC. Distal arthrogryposis type 1: clinical analysis of a large kindred. Am J Med Genet. 1996;65:282-5.

Sackey A, Coulter B, Fryer A, Van Velzen D. Epilepsy in the Freeman Sheldon syndrome.
J Child Neurol. 1995;10(4):335-7.  

Klemp P, Hall JG. Dominant distal arthrogryposis in a Maori family with marked variability of expression. Am J Med Genet. 1995;55(4):414-9.

Robbins-Furman P, Hecht JT, Rocklin M, Maklad N, Greenhaw G, Wilkins I. Prenatal diagnosis of Freeman-Sheldon syndrome (whistling face). Prenat Diagn. 1995;15(2):179-82.

Yamamoto S, Osuga T, Okada M, Hashimoto T, Shigematsu H, Suzuki S, Fujita K, Matsumoto N, Hori T. [Anesthetic management of a patient with Freeman-Sheldon syndrome]. Masui. 1994;43(11):1748-53. [Japanese]

Bekir N, Bayraktaroğlu Z, Coşkun Y, Karaaslan C. Whistling face (Freeman-Sheldon) syndrome in two siblings. Turk J Pediatr. 1994;36(4):329-32.

Sobrado CG, Ribera M, Martí M, Erdocia J, Rodríguez R. [Freeman-Sheldon syndrome: generalized muscular rigidity after anesthetic induction]. Rev Esp Anestesiol Reanim. 1994;41(3):182-4. [Spanish]

Ferreira LM, Minami E, Andrews Jde M. Freeman-Sheldon syndrome: surgical correction of microstomia. Br J Plast Surg. 1994;47(3):201-2.

Bamshad M, Watkins WS, Zenger RK, Bohnsack JF, Carey J, Otterud B, Krakowiak PA, Robertson PA, Jorde LB. A gene for distal arthogryposis type 1 maps to the pericentromeric region of chromosome 9. Am. J Hum Genet. 1994;55:1153-8.

Mayhew JF. Anesthesia for children with Freeman-Sheldon syndrome. Anesth. 1993;78(2):408.  

Phadke S, Sharma A, Agarwal SS. Freeman Sheldon syndrome with bilateral simian crease and malpositioned second toes. Indian Pediatr. 1993;30(1):91-3.  

Galliani CA, Matt BH. Laryngomalacia and intra-neural striated muscle in an infant with the Freeman-Sheldon syndrome. Int J Pediatr Otorhinolaryngol. 1993;25(1-3):243-8.

Carey JC, Dolcourt JL, Palaumbos JC, Dolcourt J. Phenotypic heterogeneity of the Freeman-Sheldon 'Syndrome'. Am J Hum Genet. 1993;53:413.

Di Rocco M, Erriu MI, Lignana E. Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: another case. Am J Med Genet. 1992;44(3):391.  

Jones R, Dolcourt JL. Muscle rigidity following halothane anesthesia in two patients with Freeman-Sheldon syndrome. Anesthesiology. 1992;77(3):599-600.  

Fuchs GA. [Idiopathic multicentric osteolysis and the delimitation of the cranio-carpal-tarsal-osteolysis syndrome]. Z Orthop Ihre Grenzgeb. 1991;129(6):542-8. [German]

Parisi G, Molino O, Squadrone NP, Chiarelli A, Jaber H, Galante E. [Freeman-Sheldon syndrome. Case contribution and review of the literature]. Minerva Pediatr. 1991;43(10):653-9. [Italian]

Suanes Cabello A, Espino Aguilar R, Gil Rivas R, de la Torre Cecilia MC, Martínez Alarcón JJ, Nicolau Castro J, Romanos Lezcano A. [Freeman-Sheldon syndrome. Report of a case]. An Esp Pediatr. 1991;34(3):247-9. [Spanish]  

Schrander-Stumpel C, Fryns JP, Beemer FA, Rive FA. Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. Am J Med Genet. 1991;38(4):557-61.

Diaz JH, Guarisco JL, LeJeune FE Jr. Perioperative management of paediatric microstomia. Can J Anaesth. 1991;38(2):217-21.

Millner MM, Mutz ID, Rosenkranz W. Whistling face syndrome. A case report and literature review. Acta Paediatr Hung. 1991;31(3):279-89.

Hirschfelder U, Hirschfelder H. [Craniocarpotarsal dystrophy (Freeman-Sheldon Syndrome)]. Dtsch Zahnarztl Z. 1990;45(4):209-12. [German]

Wood VE, Biondi J. Treatment of the windblown hand. J Hand Surg. 1990;15A:431-438.

Guzzanti V, Toniolo RM, Lembo A. [The Freeman-Sheldon syndrome]. Arch Putti Chir Organi Mov. 1990;38(1):215-22. [Italian]

Gorlin RJ, Cohen MM Jr, Levin LS. Syndromes of the head and neck. New York: Oxford University Press. 1990:634-7.

Elhassani S. Neonatal dysmorphology. Neonatal Intensive Care. 1990;3(5):20-1, 34.

Wenner SM, Shalvoy RM. Two-stage correction of thumb adduction contracture in Freeman-Sheldon syndrome (craniocarpotarsal dysplasia). J Hand Surg Am. 1989;14(6):937-40.

Marasovich WA, Mazaheri M, Stool SE. Otolaryngologic findings in whistling face syndrome. Arch Otolaryngol Head Neck Surg. 1989;115(11):1373-80.

Dallapiccola B, Giannotti A, Lembo A, Saguì L. Autosomal recessive form of whistling face syndrome in sibs. Am J Med Genet. 1989;33(4):542-4.

Duggar RG Jr, DeMars PD, Bolton VE. Whistling face syndrome: general anesthesia and early postoperative caudal analgesia. Anesth. 1989;70(3):545-7.  

Simosa V, Penchaszadeh VB, Bustos T. A new syndrome with distinct facial and auricular malformations and dominant inheritance. Am J Med Genet. 1989;32(2):184-6.

Guyuron B, Winkler PA. Craniocarpotarsal dysplasia: the whistling face syndrome. Ann Plast Surg. 1988;20(1):86-8.

Illum N, Reske-Nielsen E, Skovby F, Askjaer SA, Bernsen A. Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system. Neuropediatria. 1988;19:186-192.

Wang TR, Lin SJ. Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family. Am J Med Genet. 1987;28(2):471-5.

Bonioli E, Bellini C, Ruffa G, Lagorio V, Gemme G.[Freeman-Sheldon syndrome. Description of 2 cases of probable recessive autosomal inheritance]. Minerva Pediatr. 1987;39(3-4):123-7. [Italian]  

Träger D. [Cranio-carpo-tarsal dysplasia syndrome (Freeman-Sheldon syndrome, whistling face syndrome)]. Z Orthop Ihre Grenzgeb. 1987;125(1):106-7. [German]

Sánchez JM, Kaminker CP. New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome. Am J Med Genet. 1986;25(3):507-11.

O'Keefe M, Crawford JS, Young JD, Macrae WG. Ocular abnormalities in the Freeman-Sheldon syndrome. Am J Ophthalmol. 1986;102(3):346-8.

Tateishi M, Imaizumi H, Namiki A, Katsuno M, Kawana S, Ujike Y. [Anesthetic management of a patient with Freeman-Sheldon ("whistling face") syndrome]. Masui. 1986;35(7):1114-8. [Japanese]  

Vanĕk J, Janda J, Amblerová V, Losan F. Freeman-Sheldon syndrome: a disorder of congenital myopathic origin? J Med Genet. 1986;23(3):231-6.

Laishley RS, Roy WL. Freeman-Sheldon syndrome: report of three cases and the anaesthetic implications. Can Anaesth Soc J. 1986;33(3 Pt 1):388-93.

Goyel NA, Patel ZM, Wagle PB, Mulye VR. Freeman Sheldon syndrome. Indian Pediatr. 1986;23(2):146-8.  

Sanchez JM, Kaminker CP. New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome. Am J Med Genet. 1986;25:507-11.

Harris WA, Yngve DA, Herndon WA. Whistling face syndrome. Orthop. 1985;8(11):1421-2.

Fitzsimmons JS, Zaldua V, Chrispin AR. Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance. J Med Genet. 1984;21(5):364-8.  

Bajaj M, Mehta L. Freeman-Sheldon (whistling face) syndrome in a Turner mosaic. J Med Genet. 1984;21(5):398.  

Martini AK, Banniza von Bazan U. [Hand deformities in Freeman-Sheldon syndrome and their surgical treatment]. Z Orthop Ihre Grenzgeb. 1983;121(5):623-9. [German]

Aldinger G, Eulert J. [The Freeman-Sheldon Syndrome]. Z Orthop Ihre Grenzgeb. 1983;121(5):630-3. [German]

Malkawi H, Tarawneh M. The whistling face syndrome, or craniocarpotarsal dysplasia. Report of two cases in a father and son and review of the literature. J Pediatr Orthop. 1983;3(3):364-9.

Patel M, Mahmud F. A case of Freeman-Sheldon syndrome (cranio-carpotarsal dysplasia) with spatulate ("canoe paddle") ribs. Br J Radiol. 1983;56(661):50-1.  

Martini AK, Banniza von Bazan U. [Surgical treatment of the hand deformity in Freeman-Sheldon syndrome]. Handchir Mikrochir Plast Chir. 1982;14(4):210-2. [German]

Kousseff BG, McConnachie P, Hadro TA. Autosomal recessive type of whistling face syndrome in twins. Pediatr. 1982;69(3):328-31.

Cirillo Silengo M, Davi GF, Bianco R, De Marco A, Costa M, Franceschini P, Bonenti G. [The Freeman-Sheldon syndrome with mental retardation]. Minerva Pediatr. 1982;34(6):277-80. [Italian]  

Hall JG, Reed SD, Greene G. The distal arthrogryposes: delineation of new entities--review and nosologic discussion. Am J Med Genet. 1982;11(2):185-239.

Nara T. Reconstruction of an upper lip and the coloboma in the nasal ala accompanying with Freeman-Sheldon syndrome. Nippon Geka Hokan. 1981;50(4):626-32.  

Call WH, Strickland JW. Functional hand reconstruction in the whistling-face syndrome. J Hand Surg Am. 1981;6(2):148-51.  

Kaul KK. Whistling face syndrome (craniocarpotarsal dysplasia). Indian Pediatr. 1981;18(1):72-3.  

Estrada R, Rosenfeld W, Salazar JD, Jhaveri R. Freeman-Sheldon syndrome with unusual hand and foot anomalies. J Natl Med Assoc. 1981;73(7):664-7.

Pahor AL. Whistling-face syndrome. Ear Nose Throat J. 1980;59(5):232-4.  

Savini R, Gualdrini G. Report on two cases of Freeman-Sheldon syndrome ("whistling face). Ital J Orthop Traumatol. 1980;6(1):105-15.

Wettstein A, Buchinger G, Braun A, von Bazan UB. A family with whistling-face-syndrome. Hum Genet. 1980;55(2):177-89.

Freilinger G, Rett A, Killian W. [A rare hand malformation, the Freeman-Sheldon syndrome]. Handchirurgie. 1980;12(3-4):225-7. [German]

Caldwell RJ, Grieve BJ, Mamunes P, Clary BB, Nance WE. Report of a Family with Freeman-Sheldon Syndrome (Cranio-Carpo-Tarsal Dysplasia). Am J Hum Genet. 1980;32:101A.

Vaitiekaitis AS, Hornstein L, Neale HW. A new surgical procedure for correction of lip deformity in cranio-carpo-tarsal dysplasia (whistling face syndrome). J Oral Surg. 1979;37(9):669-72.

Rao SS, Chary R, Karan S. Freeman Sheldon syndrome in a newborn (whistling face)--a case report. Indian Pediatr. 1979;16(3):291-2.  

Zizka J, Lichý J, Balícek P. [The cranio-carpo-tarsal dysplasia syndrome in a 6-year-old girl (whistling-face syndrome)]. Cesk Pediatr. 1979;34(2):96-7. [Czech]  

Bergsma D, Liss AR. Birth Defects Compendium (New York) 1979;2:270.

Kratzer W, Borm U. [The cranio-carpo-tarsal dysplasia syndrome (the Freeman-Sheldon whistling-face syndrome). Practical significance of diagnosis]. Monatsschr Kinderheilkd. 1978;126(5):277-9. [German]  

Grasshoff H, St Braun H, Sakreida M. [The Freeman-Sheldon syndrome]. Beitr Orthop Traumatol. 1978;25(5):241-7. [German]  

Temtany, S, McKusick V. Contracture deformities as a part of syndromes. Birth Defects Orig. Artic Ser. 1978;14(3):447-79.

Ishii Y, Takeda K, Yoshitake K, Ono T. The whistling face syndrome or cranio-carpo-tarsal dysplasia. Kyoto Daigaku Kokukagaku Kiyo. 1978;18:47-52.  

O'Connell, DJ, Hall CM. Cranio-carpo-tarsal dysplasia A report of seven cases. Radiology. 1977;123:719-22.

Sohi BK, Sohi AS. Freeman-sheldon syndrome (the whistling face). Indian Pediatr. 1977;14(10):865-6.

Alves AF, Azevedo ES. Recessive form of Freeman-Sheldon's syndrome or 'whistling face.' J Med Genet. 1977;14(2):139-41.

Rütt A. [Dislocation of patella also a symptom of other diseases or consequence of local primary alteration of the scelet (author's transl)]. Z Orthop Ihre Grenzgeb. 1976;114(3):342-9. [German]

Fitch N. Letter: Whistling face syndrome and finger abnormalities. Clin Genet. 1976;9(4):445.  

Rinsky LA, Bleck EE. Freeman-Sheldon ("whistling face") syndrome. J Bone Joint Surg Am. 1976;58(1):148-50.  

Sanger RG. Proceedings: Craniocarpotarsal dysplasia with partial mandibular agenesis--an embryologic rarity or unusual gene expression? Birth Defects Orig Artic Ser. 1976;12(5):331-2.  

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