Human Genetics

, Volume 55, Issue 2, pp 177–189 | Cite as

A family with whistling-face-syndrome

  • Angelika Wettstein
  • G. Buchinger
  • A. Braun
  • U. Banniza v. Bazan
Original Investigations


A family with 7 persons affected with whistling-face-syndrome in 3 successive generations is described. The clinical variability of the syndrome within one family is demonstrated by means of examining particular characteristics of four daughters in the family. Six affected persons are female; the only male carrier died in early infancy because of the severity of symptoms. The known autosomal dominant inheritance combined with clinical variability and bias towards female manifestation is present in this family.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Burian, F.: The “whistling face” characteristic in a compound cranio-facio-corporal syndrome. Brit. J. Plast. Surg. 16, 140–143 (1963)Google Scholar
  2. 2.
    O'Connell, D., Hall, Ch.: Cranio-carpo-tarsal dysplasia—a report of seven cases. Radiology 123, 719–722 (1977)Google Scholar
  3. 3.
    Fraser, F., Pashayan, H., Kadish, M.: Cranio-carpo-tarsal dysplasia. Report of a case in father and son. JAMA 211, 1374–1376 (1970)Google Scholar
  4. 4.
    Freeman, E., Sheldon, J.: Cranio-carpo-tarsal dystrophy: undescribed congenital malformation. Arch. Dis. Child. 13, 277–283 (1938)Google Scholar
  5. 5.
    Gross-Kieselstein, E., Abrahamov, A.: Familial occurence of the Freeman-Sheldon-Syndrome: cranio-carpo-tarsal dysplasia. Pediatrics 47, 1064 (1971)Google Scholar
  6. 6.
    Otto, F.: Die cranio-carpo-tarsale Dystrophie (Freeman and Sheldon): ein kasuistischer Beitrag. Z. Kinderheilkunde 73, 240–250 (1953)Google Scholar
  7. 7.
    Pfeiffer, R., Ammermann, M.: Das Syndrom von Freeman und Sheldon—drei neue Beobachtungen. Z. Kinderheilkunde 112, 43–53 (1972)Google Scholar
  8. 8.
    Rintala, A.: Freeman-Sheldon's Syndrome, cranio-carpotarsal dystrophy. Acta Paed. Scand. 57, 553–556 (1968)Google Scholar
  9. 9.
    Sharma, R., Tandon, S.: “Whistling face” deformity in compound cranio-facio-corporal syndrome. Brit. Med. J. 4, 33 (1970)Google Scholar
  10. 10.
    Walker, B.: Whistling-Face-Windmill-Vane-Hand Syndrome. Birth Defects Orig. Ar. Ser. V, 228–230 (1960)Google Scholar
  11. 11.
    Weinstein, S., Gorlin, R.: Cranio-carpo-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations. Am. J. Dis. Child. 117, 427–433 (1969)Google Scholar

Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • Angelika Wettstein
    • 1
  • G. Buchinger
    • 1
  • A. Braun
    • 2
  • U. Banniza v. Bazan
    • 2
  1. 1.Institut für Anthropologie und HumangenetikUniversität HeidelbergHeidelbergFederal Republic of Germany
  2. 2.Orthopädische Klinik und PoliklinikUniversität HeidelbergHeidelbergFederal Republic of Germany

Personalised recommendations