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

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.