[TAR syndrome (congenital thrombocytopenia and aplasia of the radial bones) in a 5-months-old boy].
A boy aged 5 months had the TAR syndrome (thrombocytopenia and aplasia of radial bones) of autosomal recessive inheritance. Bilateral reduction of the length of the upper extremities included both forearm bones and humerus, so that the shoulder girdle was connected directly to the hand, with all fingers and thumb normally shaped. These skeletal anomalies were associated with thrombocytopenia. Various other abnormalities were present, with the most controversial anomaly being bilateral cleft of the lip and secondary palate. It may be an accidental coexistence of abnormalities or may suggest a common mechanism of the development of the TAR syndrome, Roberts syndrome and SC-phocomelia belonging to hereditary reduction of the extremities with identical mode of inheritance.
Midro
A T
AT
Zakładu Genetyki Klinicznej Instytutu Połoznictwa i Chorób Kobiecych Ak. Med., Białymstoku.
Iwaszkiewicz-Pawłowska
A
A
Puchnarewicz
A
A
Debek
K
K
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004480:Ectromelia / Q000097:blood / Q000150:complications* / Q000235:genetics; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D007223:Infant; D008297:Male; D011884:Radius / Q000002:abnormalities; D013577:Syndrome; D013921:Thrombocytopenia / Q000150:complications* / Q000151:congenital / Q000235:genetics
Zespół TAR (wrodzonej trombocytopenii i braku kości promieniowych) u 5-miesiecznego chłopca.