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Baller-Gerold syndrome: An 11th case of craniosynostosis and radial aplasia

✍ Scribed by Boudreaux, Jeanne M. ;Colon, Marc A. ;Lorusso, Giovanni D. ;Parro, Elizabeth A. ;Pelias, Mary Z.

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 421 KB
Volume: 37
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320370403

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✦ Synopsis

We report on a patient with craniosynostosis, left radius aplasia, right radius hypoplasia, and other congenital anomalies. This is the 11th reported case of the Baller-Gerold syndrome. Autosomal recessive inheritance of this syndrome is suggested by evidence of probable parental consanguinity.

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The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents with additional abnormalities, such as polymicrogyria