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Review of the First Eight Known Cases

Manuel M. Villaverde, MD; Jacyntho A. Da Silva, MD

JAMA. 1975;234(8):844-847.

Abstract
To date, a total of eight cases of the Turner-mongolism polysyndrome have been recognized. The clinical manifestations include retarded growth (resulting in a small and infantile appearance), with shield-like chest, poorly developed breasts, absent body hair, brachycephaly, short neck with foldings and low hairline, oblique eyes with epicanthal folds, squat nose, scrotal or normal tongue, abnormal hard palate (high or cleft), short hands and feet, frequent cubitus valgus, normal clitoris (may be either hypoplastic or peniform), mental retardation, and the XO/G+ karyotype, mosaic for XO in most instances. At this time, a single cause for all cases of the double aneuploidy is not known.

(JAMA 234:844-847, 1975)

Author Affiliations
From Rutgers University School of Medicine, New Brunswick, and the Woodbridge State School Hospital, Woodbridge, NJ.

Footnotes
Reprint requests to Woodbridge State School, Woodbridge, NJ 07095 (Dr. Villaverde).

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