You are seeing this message because your Web browser does not support basic Web standards. Find out more about why this message is appearing and what you can do to make your experience on this site better.


ABOUT JAMA
Advanced Search

Welcome   | My Account | E-mail Alerts | Access Rights | Sign In


  Vol. 211 No. 8, February 23, 1970 TABLE OF CONTENTS
  JAMA
  •  Online Features
  ARTICLES
 This Article
 •References
 •Full text PDF
 •Send to a friend
 • Save in My Folder
 •Save to citation manager
 •Permissions
 Citing Articles
 •Citation map
 •Citing articles on HighWire
 •Contact me when this article is cited
 Related Content
 •Similar articles in JAMA
 Social Bookmarking
  Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit Add to Technorati Add to Twitter What's this?

Cranio-Carpo-Tarsal Dysplasia

Report of a Case in Father and Son

F. Clarke Fraser, MD, PhD, DSc, FRSC; Hermine Pashayan, MD; Manuel E. Kadish, MD

JAMA. 1970;211(8):1374-1376.


Abstract

The features of whistling face syndrome as it appeared in a father were compared with those found in his infant son. The syndrome is inherited as an autosomal dominant trait. Sporadic cases presumably represent fresh mutations, and will transmit the mutant gene to about half of their children. Siblings of sporadic cases, on the other hand, will have a very low risk of being affected.



Author Affiliations

From the departments of medical genetics (Drs. Fraser and Pashayan) and radiology (Dr. Kadish), Montreal Children's Hospital, and the Department of Genetics, Human Genetics Sector, McGill University, Montreal (Dr. Fraser).


Footnotes

Reprint requests to 2300 Tupper St, Montreal 108 (Dr. Fraser).



Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Progressive neurological deterioration in a child with distal arthrogryposis and whistling face
LEV et al.
J. Med. Genet. 2000;37:231-233.
FULL TEXT  

Otolaryngologic Findings in Whistling Face Syndrome
Marasovich et al.
Arch Otolaryngol Head Neck Surg 1989;115:1373-1380.
ABSTRACT  

The Whistling Face Syndrome-- Cranio-Carpo-Tarsal Dysplasia: Report of a Case and a Survey of the Literature
MacLeod and Patriquin
CLIN PEDIATR 1974;13:184-189.
ABSTRACT  





HOME | CURRENT ISSUE | PAST ISSUES | TOPIC COLLECTIONS | CME | SUBMIT | SUBSCRIBE | HELP
CONDITIONS OF USE | PRIVACY POLICY | CONTACT US | SITE MAP
 
© 1970 American Medical Association. All Rights Reserved.