"Turner Phenotypes" vs Noonan's Syndrome

Autor: Char, Florence
Zdroj: JAMA: Journal of the American Medical Association; April 1971, Vol. 216 Issue: 4 p679-680, 2p
Abstrakt: To the Editor.—This is in reference to the communication by Miller et al "Turner Phenotype: Pregnancy and Cyanotic Congenital Heart Disease" which was published in The Journal (214:2337, 1970).There is a need for clarification and standardization of terminology in the literature concerning what appears to be a distinct entity. The article reports a female who had a normal karyotype, Turner phenotype, and cyanotic congenital heart disease, and who gave birth to an appa-ently normal offspring. From the description in the text and the photograph it appears that the patient is a typical case of the Noonan syndrome.The Noonan syndrome1-3 in essence consists of a wide and varied spectrum of congenital defects, including a distinctive facies of broad forehead and hypertelorism, flat nasal bridge, and low-set thick ears; congenital heart disease, most commonly pulmonic stenosis, atrial septal defect, peripheral pulmonic stenosis, and occasionally tetraology of Fallot,
Databáze: Supplemental Index