Indian Journal of Physical Medicine and Rehabilitation

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VOLUME 24 , ISSUE 1 ( March, 2013 ) > List of Articles

CASE REPORT

Whistling-face Syndrome – A Case Report

P K Sahoo, J Sahoo, S P Das, R N Mohanty

Citation Information : Sahoo PK, Sahoo J, Das SP, Mohanty RN. Whistling-face Syndrome – A Case Report. Indian J Phy Med Rehab 2013; 24 (1):16-18.

DOI: 10.5005/ijopmr-24-1-16

Published Online: 00-03-2013

Copyright Statement:  Copyright © 2013; Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

The craniocarpotarsal, or “whistling face” syndrome was first described by Freeman and Sheldon in 1938. It's an extremely rare condition, comes under one type of distal arthrogryposis category. Prominent deformities include deformity of hand and foot with typical whistling face. Early diagnosis of the condition aware the clinician about resistance to different therapeutic manoeuvres and management is planned accordingly.


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  1. Clinical characteristics and natural history of Freeman-Sheldon syndrome. J Pediatr, 2006;117:754-62.
  2. A revised and extended classification of the distal arthrogryposes. Am J Med Genet 1996;65:277-81.
  3. The distal arthrogryposes: delineation of new entities—review and nosologic discussion”. Am J Med Genet 1982; 11: 185-239.
  4. “Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?” J Med Genet 1986;23:231-6.
  5. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet 1997;60:426-32.
  6. Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). Am J Med Genet 1998;76:93-8.
  7. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet 2003;73:212-4.
  8. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 2003;72:681-90.
  9. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006;38:561-5.
  10. The whistling face syndromecranio-carpo-tarsal dysplasia. Clin Pediatr; 13: 184-9.
  11. Medical family therapy in children with chronic illness (in German). Prax Kinderpsychol Kinderpsychiatr 1998;47:1-18.
  12. The function of the multidisciplinary team in child psychiatry-clinical and educational aspects. Can J Psychiatry 1995;40:348-53.
  13. A family with whistling face syndrome. Hum Genet 1980;55:2177-89.
  14. “Freeman Sheldon syndrome in a newborn (whistling face)—a case report”. Indian Pediatr 1979,16:291-2.
  15. Whistling face syndrome. A case report and literature review. Acta Paediatr Hung 1991; 31: 279-89.
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