Midro A T, Iwaszkiewicz-Pawłowska A, Puchnarewicz A, Debek K
Zakładu Genetyki Klinicznej Instytutu Połoznictwa i Chorób Kobiecych Ak. Med., Białymstoku.
Wiad Lek. 1992 Jan;45(1-2):66-9.
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.
一名5个月大的男婴患有常染色体隐性遗传的TAR综合征(血小板减少症和桡骨发育不全)。双侧上肢长度缩短,包括两根前臂骨和肱骨,以至于肩胛带直接与手部相连,所有手指和拇指形状正常。这些骨骼异常与血小板减少症相关。还存在各种其他异常,最具争议的异常是双侧唇腭裂。这可能是异常情况的偶然并存,也可能提示TAR综合征、罗伯茨综合征和短肢海豹畸形(SC - phocomelia)属于具有相同遗传模式的遗传性肢体短小,它们在发育上有共同机制。