Turner-mongolism polysyndrome. Review of the first eight known cases.
To date, a total of eight cases of the Turner-mongolism polysyndrome have been recognized. The clinical manifestations included 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 cubitis 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.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D001827:Body Height; D002648:Child; D004314:Down Syndrome / Q000150:complications*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis; D007621:Karyotyping; D009030:Mosaicism; D011378:Prognathism / Q000175:diagnosis; D013577:Syndrome; D014314:Trisomy; D014424:Turner Syndrome / Q000150:complications*