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Congenital absence of the tibiae and thumbs with polydactyly. A rare genetic disease (Werner's syndrome). 1986

I Cordeiro, and H Santos, and P Maroteaux

Report of a male with bilateral aplasia of the tibiae and polydactyly. The autosomal dominant pattern of inheritance is emphasized through the study of this family and literature review.

UI MeSH Term Description Entries
D008297 Male Males
D005385 Fingers Four or five slender jointed digits in humans and primates, attached to each HAND. Finger
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013933 Thumb The first digit on the radial side of the hand which in humans lies opposite the other four. Thumbs
D013977 Tibia The second longest bone of the skeleton. It is located on the medial side of the lower leg, articulating with the FIBULA laterally, the TALUS distally, and the FEMUR proximally. Tibias
D014898 Werner Syndrome An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease. Progeria, Adult,Adult Premature Aging Syndrome,Adult Progeria,Werner's Syndrome,Werners Syndrome,Syndrome, Werner,Syndrome, Werner's,Syndrome, Werners

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