A further patient with van Maldergem syndrome.

  title={A further patient with van Maldergem syndrome.},
  author={Teresa M. Neuhann and Dietmar M{\"u}ller and Karl Hackmann and Sylvia Holzinger and Evelin Schrock and Nataliya Di Donato},
  journal={European journal of medical genetics},
  volume={55 6-7},
We report on a male patient with the proposed diagnosis of the rare but very distinct entity of van Maldergem syndrome. His parents are first cousins. At the age of 4 years the boy presented with severe developmental delay, talipes equinovarus, finger camptodactyly with interphalangeal pterygium, joint laxity, bilateral microtia, and a dysmorphic facies. He showed bilateral epicanthus, telecanthus, short palpebral fissures, broad flat nasal bridge, and dental malocclusion. The combination of… CONTINUE READING


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