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Recessive form of Freeman-Sheldon's syndrome or 'whistling face',.
J Med Genet. 1977 Apr; 14(2):139-41.JM

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.

Links

Publisher Full Text
ncbi.nlm.nih.gov
jmg.bmj.com
PMC Free PDF

Authors

Alves AF
No affiliation info available
Azevedo ES
No affiliation info available

MeSH

Abnormalities, MultipleBlepharoptosisChildConsanguinityCraniofacial DysostosisFemaleGenes, RecessiveHumansMaleMouth AbnormalitiesPedigreeSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

856233

Citation

Alves, A F., and E S. Azevedo. "Recessive Form of Freeman-Sheldon's Syndrome or 'whistling Face',." Journal of Medical Genetics, vol. 14, no. 2, 1977, pp. 139-41.
Alves AF, Azevedo ES. Recessive form of Freeman-Sheldon's syndrome or 'whistling face',. J Med Genet. 1977;14(2):139-41.
Alves, A. F., & Azevedo, E. S. (1977). Recessive form of Freeman-Sheldon's syndrome or 'whistling face',. Journal of Medical Genetics, 14(2), 139-41.
Alves AF, Azevedo ES. Recessive Form of Freeman-Sheldon's Syndrome or 'whistling Face',. J Med Genet. 1977;14(2):139-41. PubMed PMID: 856233.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Recessive form of Freeman-Sheldon's syndrome or 'whistling face',. AU - Alves,A F, AU - Azevedo,E S, PY - 1977/4/1/pubmed PY - 1977/4/1/medline PY - 1977/4/1/entrez SP - 139 EP - 41 JF - Journal of medical genetics JO - J Med Genet VL - 14 IS - 2 N2 - 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. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/856233/Recessive_form_of_Freeman_Sheldon's_syndrome_or_'whistling_face'_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=856233 DB - PRIME DP - Unbound Medicine ER -