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Tetraphocomelia in the syndrome of Thrombocytopenia with Absent Radii (TAR syndrome)

โœ Scribed by Anyane-Yeboa, K. ;Jaramillo, S. ;Nagel, C. ;Grebin, B. ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
346 KB
Volume
20
Category
Article
ISSN
0148-7299

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Parent to child transmission of the thro
โœ Ward, Richard E. ;Bixler, David ;Provisor, Arthur J. ;Bader, Patricia ;Opitz, Jo ๐Ÿ“‚ Article ๐Ÿ“… 1986 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 479 KB ๐Ÿ‘ 1 views

We report on cases of the thrombocytopenia absent radius syndrome (TAR) in a family with the first documented occurrence of parent-to-child transmission. At least three other families have been reported in which TAR has been transmitted across generations. The pattern of transmission in these cases

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A fetus with bilateral radial aplasia was identified on routine ultrasound. The diagnosis of thrombocytopenia absent radius (TAR) syndrome was confirmed with cordocentesis. The differential diagnosis of radial aplasia and prenatal tests available to assist with management are discussed. Cordocentesi