Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1977 Apr;14(2):139–141. doi: 10.1136/jmg.14.2.139

Recessive form of Freeman-Sheldon's syndrome or 'whistling face',.

A F Alves, E S Azevedo
PMCID: PMC1013533  PMID: 856233

Abstract

Freeman-Sheldon's syndrome is a rare genetic disease inherited as an autosomal dominant trait in some families but showing sporadic appearance in the majority of the reported cases. In the present paper we report a family having two affected children from normal consanguineous parents suggesting that Freeman-Sheldon's syndrome may be heterogeneous from the genetic point of view.

Full text

PDF
139

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BURIAN F. The "whistling face" characteristic in a compound cranio-facio-corporal syndrome. Br J Plast Surg. 1963 Apr;16:140–143. doi: 10.1016/s0007-1226(63)80095-8. [DOI] [PubMed] [Google Scholar]
  2. Fraser F. C., Pashayan H., Kadish M. E. Cranio-carpo-tarsal dysplasia. Report of a case in father and son. JAMA. 1970 Feb 23;211(8):1374–1376. doi: 10.1001/jama.211.8.1374. [DOI] [PubMed] [Google Scholar]
  3. Rintala A. E. Freeman-Sheldon's syndrome, cranio-carpo-tarsal dystrophy. Acta Paediatr Scand. 1968 Nov;57(6):553–556. doi: 10.1111/j.1651-2227.1968.tb06979.x. [DOI] [PubMed] [Google Scholar]
  4. Weinstein S., Gorlin R. J. Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations. Am J Dis Child. 1969 Apr;117(4):427–433. doi: 10.1001/archpedi.1969.02100030429007. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES