Thrombocytopenia with absent radius in a boy and his uncle

✍ Scribed by Schnur, Rhonda E. ;Eunpu, Deborah L. ;Zackai, Elaine H. ;Opitz, John M. ;Reynolds, James F.

• Book ID: 101445385
• Publisher: John Wiley and Sons
• Year: 1987
• Tongue: English
• Weight: 411 KB
• Volume: 28
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320280117

✦ Synopsis

We report a boy and his maternal uncle who have Thrombocytopenia-Absent Radius (TAR) syndrome. The mother of the p r o p i t u s is normal. A maternal aunt has mild radial hypoplasia, possibly representing partial expression of the syndrome. A review of the literature shows several pedigrees in which relatives other than sibs were affected with TAR. Thus, autosomal recessive inheritance may not account for all cases and alternate modes of transmission should be considered. Key work radial splash, thrombocytopenia, genetic counseling, prenatal dinpnosis, pedigree analysis, autosomal dominant inheritance, autosomal recessive inheritance