Probable autosomal recessive syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear

Klinische Pädiatrie
B SchlegelbergerH R Wiedemann

Abstract

A 22-year-old woman is described who presented with triphalangeal thumbs, Glanzmann's thrombasthenia and deafness of internal ear. These are features of a probable genetically determined syndrome, which can be differentiated from other radial defect syndromes. Like in typical Glanzmann's thrombasthenia, our patient showed severely reduced concentrations of glycoprotein IIb-IIIa. The patient's parents revealed reduced concentrations of glycoprotein IIb-IIIa and were considered to be heterozygotes. Thus autosomal recessive inheritance of the bleeding disorder was demonstrated. As a consequence we suppose that the complete syndrome follows this way of inheritance.

Citations

Jul 1, 1992·American Journal of Medical Genetics·H R Wiedemann
Mar 1, 1992·American Journal of Medical Genetics·B A SemmekrotH G Brunner

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