Waardenburg-like features with cataracts, small head size, joint abnormalities, hypogonadism, and osteosarcoma.
A 32-year-old black man was observed with osteosarcoma and multiple anomalies including deafness, hypopigmentation, cataracts, small head size, hypogonadism, and restricted joint mobility. The birth defects may comprise a new syndrome or combination of syndromes, of which the malignancy may be a part.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001859:Bone Neoplasms / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008297:Male; D012516:Osteosarcoma / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome; D013977:Tibia; D014849:Waardenburg Syndrome / Q000235:genetics*
D006680:HLA Antigens
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