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Journal Article

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.


Mundlos,  Stefan
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Castori, M., Brancati, F., Mingarelli, R., Mundlos, S., & Dallapiccola, B. (2007). A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. American Journal of Medical Genetics/ Part A, 143(2), 195-199. doi:10.1002/ajmg.a.31433.

Cite as:
We report on a 2-year-old girl affected by an isolated form of brachydactyly type B (BDB)-like malformation of the limbs consistent with Cooks syndrome (CS). A literature review was carried out in an attempt to delineate the CS clinical spectrum and separate it from BDB. The two conditions can be differentiated on clinical, radiological, and genetic grounds. In particular, CS shows a characteristic pattern of ungueal and phalangeal anomalies. In the hands, all rays are involved to a similar extent with bulbous tips. The feet are generally more severely affected than the hands. Involvement of the nails appears to be a primary feature and not secondary to phalangeal hypo/aplasia. Also, radial and ulnar rays are similarly affected. The CS clinical spectrum is expanded to include ungueal tumor-like lesions, observed in the present patient.