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Abstract

In 1938, Freeman and Sheldon described a syndrome characterized by a whistling face with a long philtrum, a puckered mouth, microstomia, H-shaped cutaneous dimpling on the chin, multiple joint contractures with camptodactyly, ulnar deviation of the fingers, bilateral talipes equinovarus, and kyphoscoliosis. The syndrome is also known as craniocarpotarsal dysplasia or “whistling face” syndrome.

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References

  1. Alves AF, Azevedo ES: Recessive form of Freeman-Sheldon’s syndrome or ‘whistling face’. J Med Genet 14:139–141, 1977.

    CAS  PubMed  Google Scholar 

  2. Burzynski NJ, Podruch PE, Howell J, et al.: Craniocarpotarsal dysplasia syndrome (whistling face syndrome). Case reports and survey of clinical findings. Oral Surg Oral Med Oral Pathol 39:893–900, 1975.

    Article  CAS  PubMed  Google Scholar 

  3. Dallapiccola B, Giannotti A, Lembo A, et al.: Autosomal recessive form of whistling face syndrome in sibs. Am J Med Genet 33:542–544, 1989.

    Article  CAS  PubMed  Google Scholar 

  4. Duggar RG Jr, DeMars PD, Bolton VE: Whistling face syndrome: general anesthesia and early postoperative caudal analgesia. Anesthesiology 70:545–547, 1989.

    Article  PubMed  Google Scholar 

  5. Fitzsimmons JS, Zaldua V, Chrispin AR: Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance. J Med Genet 21:364–368, 1984.

    CAS  PubMed  Google Scholar 

  6. Freeman E, Sheldon J: Cranio-carpotarsal dystrophy: Undescribed congenital malformation. Arch Dis Child 13:277–283, 1938.

    Article  Google Scholar 

  7. Gross-Kieselstein E, Abrahamov A, Ben-Hur N: Familial occurrence of the Freeman-Sheldon syndrome: cranio-carpotarsal dysplasia. Pediatrics 47:1064–1067, 1971.

    CAS  PubMed  Google Scholar 

  8. Hall JG, Reed SD, Greene G: The distal arthrogryposes: delineation of new entities—review and nosologic discussion. Am J Med Genet 11:185–239, 1982.

    Article  CAS  PubMed  Google Scholar 

  9. Kousseff BG, McConnachie P, Hadro TA: Autosomal recessive type of whistling face syndrome in twins. Pediatrics 69:328–331, 1982.

    CAS  PubMed  Google Scholar 

  10. Lev D, Yanoov M, Weintraub S, et al.: Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. J Med Genet 37:231–233, 2000.

    Article  CAS  PubMed  Google Scholar 

  11. 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 3:364–369, 1983.

    CAS  PubMed  Google Scholar 

  12. Marasovich WA, Mazaheri M, Stool SE: Otolaryngologic findings in whistling face syndrome. Arch Otolaryngol Head Neck Surg 115:1373–1380, 1989.

    CAS  PubMed  Google Scholar 

  13. Mustacchi Z, Richieri-Costa A, Frota-Pessoa O: The Freeman-Sheldon syndrome. Rev Brasil Genet II 4:259–266, 1979.

    Google Scholar 

  14. O’Connell DJ, Hall CM: Cranio-carpo-tarsal dysplasia: a report of seven cases. Radiology 123:719–722, 1977.

    CAS  PubMed  Google Scholar 

  15. Robbins-Furman P, Hecht JT, Rocklin M, et al.: Prenatal diagnosis of Freeman-Sheldon syndrome (whistling face). Prenat Diagn 15:179–182, 1995.

    Article  CAS  PubMed  Google Scholar 

  16. Robinson PJ: Freeman Sheldon syndrome: severe upper airway obstruction requiring neonatal tracheostomy. Pediatr Pulmonol 23:457–459, 1997.

    Article  CAS  PubMed  Google Scholar 

  17. Sánchez JM, Kaminker CP: New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome. Am J Med Genet 25:507–511, 1986.

    Article  PubMed  Google Scholar 

  18. Vaněk J, Janda J, Amblerov V, et al.: Freeman-Sheldon syndrome: a disorder of congenital myopathic origin? J Med Genet 23:231–236, 1986.

    PubMed  Google Scholar 

  19. Weinstein S, Gorlin RJ: Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations. Am J Dis Child 117:427–433, 1969.

    CAS  PubMed  Google Scholar 

  20. Wettstein A, Buchinger G, Braun A, et al.: A family with whistling-face-syndrome. Hum Genet 55:177–189, 1980.

    Article  CAS  PubMed  Google Scholar 

  21. Zampino G, Conti G, Balducci F, et al.: Severe form of Freeman-Sheldon-syndrome associated with brain anomalies and hearing loss. Am J Med Genet 62:293–296, 1996.

    Article  CAS  PubMed  Google Scholar 

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© 2006 Humana Press Inc.

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(2006). Freeman-Sheldon Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_80

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  • DOI: https://doi.org/10.1007/978-1-60327-161-5_80

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-681-8

  • Online ISBN: 978-1-60327-161-5

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