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Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation

✍ Scribed by Udler, Yevgenia; Halpern, Gabrielle J.; Shohat, Mordechai; Cohen, Daniela

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 14 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981228)80:5<526::aid-ajmg18>3.0.co;2-l

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✦ Synopsis

In 1995, Tsukahara et al. reported on a 9-yearold boy with radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation, a previously unreported syndrome. We now describe an 8-year-old Israeli Arab girl who appears to have the same condition. Her parents were first cousins, raising the possibility of autosomal recessive inheritance.

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