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Recognizing Ullrich-Turner syndrome by discriminant analysis of craniofacial structure

✍ Scribed by Kaiser, Christiane; Abt, Klaus


Book ID
101212959
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
69 KB
Volume
62
Category
Article
ISSN
0148-7299

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✦ Synopsis


In the present paper, we propose an efficient strategy for identification of craniofacial anomalies in the Ullrich-Turner syndrome (UTS). Standardized portrait-and profilephotographs were taken of 21 UTS patients with X-monosomy and 21 normal females. Twenty-seven craniofacial parameters were read from the photographs. The data were analyzed by discriminant analysis, a multivariate statistical method. The result was a function represented by a linear combination of all those craniofacial parameters which best separate the two groups. The discriminant function was applied to 15 additional patients with UTS of various cytogenetic types. All 15 patients were classified correctly.

The technique facilitates syndrome-recog nition and is a contribution toward the study of karyotype-phenotype relations.


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Ullrich-Turner syndrome (UTS), or monosomy X, is a genetic disorder characterized by short stature, gonadal dysgenesis, and a particular neurocognitive profile of normally developed language abilities (particularly verbal IQ) and impaired visual-spatial and/or visual-perceptual abilities. The most f