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The Indian Journal of Pediatrics

, Volume 77, Issue 2, pp 196–197 | Cite as

Freeman-Sheldon syndrome-prenatal and postnatal diagnosis

  • Sridevi S. HegdeEmail author
  • Mitesh S. Shetty
  • B. S. Rama Murthy
Clinical Brief

Abstract

A six-day-old girl, born to normal non-consanguineous parents presented with mask like facies with a small mouth giving a ‘whistling’ appearance. Other dysmorphic features include deep set eyes, broad nasal bridge, long philtrum and ‘H’ shaped cutaneous dimple on the chin. There was congenital windmill vane hand position and severe talipes equinovarus deformity. The above features are characteristic of Freeman-Sheldon syndrome also known as Whistling Face syndrome. Ultrasound scanning during 8th month of the pregnancy showed the fetus to have facial abnormality and bilateral clenched hand and talipes with extension contractures of knees. Provisional diagnosis of FSS was made which was confirmed after the birth. Thus all cases of Arthrogryposis during prenatal scan should be carefully looked for the facial abnormality in the fetus.

Key words

Freeman-Sheldon syndrome Whistling face syndrome Arthrogryposis MYH3 Gene 

References

  1. 1.
    Freeman E A, Sheldon J H. Cranio-carpotarsal dystrophy: undescribed congenital malformation. Arch Dis Child 1938; 13: 277–283.CrossRefGoogle Scholar
  2. 2.
    Burian F. The ‘whistling face’ characteristic in a compound cranio-facio-corporal syndrome. Brit J Plast Surg 1963; 16: 140–143.CrossRefPubMedGoogle Scholar
  3. 3.
    Bamshad M, Jorde L B, Carey J C. A revised and extended classification of the distal arthrogryposes. Am J Med Genet 1996; 65: 277–281.CrossRefPubMedGoogle Scholar
  4. 4.
    Toydemir RM, Rutherford A, Whitby FG et al. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006;38:561–565.CrossRefPubMedGoogle Scholar
  5. 5.
    Vimercati A, Scioscia M, Burattini MG et al. Prenatal diagnosis of Freeman-Sheldon syndrome and usefulness of an ultrasound fetal lip width normogram. Prenat Diagn 2006;26:679–683.CrossRefPubMedGoogle Scholar
  6. 6.
    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 1996; 62: 293–296.CrossRefPubMedGoogle Scholar
  7. 7.
    Stevenson DA, Carey JC, Palumbos J et al. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics 2006; 117:754–762.CrossRefPubMedGoogle Scholar
  8. 8.
    Jones KL. Freeman-Sheldon syndrome. In Smith’s Recognizable Patterns of Human Malformation, 5th ed., Philadelphia, W.B.Saunders company, 1997;214–215.Google Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2010

Authors and Affiliations

  • Sridevi S. Hegde
    • 1
    • 3
    Email author
  • Mitesh S. Shetty
    • 1
  • B. S. Rama Murthy
    • 2
  1. 1.Department of Medical GeneticsManipal Hospital BangaloreBangaloreIndia
  2. 2.Srinivasa Ultrasound Scanning CentreBangaloreIndia
  3. 3.Department Of Medical GeneticsManipal HospitalBangaloreIndia

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