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Direct Familial Transmission of the Turner Phenotype

James J. Nora, MD; Anil K. Sinha, PhD
Am J Dis Child. 1968;116(4):343-350. doi:10.1001/archpedi.1968.02100020347001.
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MOST of the phenotypic characteristics of what is now called Turner's syndrome were first described by Ullrich,1 in 1930, in an 8-year-old girl. Webbing of the neck, cubitus valgus, congenital lymphangiectatic edema, prominent ears, small mandible, ptosis, dystrophy of the nails, and hypoplastic nipples were among the physical findings he reported. In 1949, Ullrich2 summarized two decades of observations on such patients and noted that there was a 4:1 preponderance of females over males who presented with these clinical features. Other observers, such as Bizarro3 had also recorded the presence of this syndrome in males.

Several years after Ullrich's original report, Turner,4 in 1938, specified certain features in older patients, all of whom were females, which are considered by some to be the cardinal signs of Turner's syndrome: webbed neck, cubitus valgus, and sexual infantilism. The sexual infantilism had not been apparent to Ullrich, whose patients


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