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

Am J Med Genet A. 2007 Jan 15;143A(2):195-9. doi: 10.1002/ajmg.a.31433.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Female
  • Fingers / abnormalities
  • Fingers / diagnostic imaging
  • Foot Deformities, Congenital* / diagnostic imaging
  • Foot Deformities, Congenital* / pathology
  • Hand Deformities, Congenital* / diagnostic imaging
  • Hand Deformities, Congenital* / pathology
  • Humans
  • Radiography
  • Syndrome
  • Toes / abnormalities
  • Toes / diagnostic imaging