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Radial ray aplasia and renal anomalies in father and son: A new syndrome

โœ Scribed by Sofer, Shaul ;Bar-Ziv, Jacob ;Abeliovich, Dvorah

Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
413 KB
Volume
14
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

We describe a father and his son with bilateral absence of radius and thumb. Both have short stature, external ear malformation, and renal anomaly. In the son a high frequency of chromosome breaks in lymphocytes was found.

We compare this familial syndrome to Fanconi anemia and other radial ray aplasia syndromes and conclude that we are dealing with a different entity, which apparently is inherited as a dominant trait.

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