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.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001780:Blood Coagulation Tests; D001791:Blood Platelet Disorders / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003638:Deafness / Q000235:genetics*; D007758:Ear, Inner / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D013915:Thrombasthenia / Q000235:genetics*; D013933:Thumb / Q000002:abnormalities*