Original Investigations

Human Genetics

, Volume 67, Issue 3, pp 272-295

Anthropometric definitions of dysmorphic facial signs

  • S. Stengel-RutkowskiAffiliated withAbteilung für pädiatrische Genetik, Universität München
  • , P. SchimanekAffiliated withAbteilung für pädiatrische Genetik, Universität München
  • , A. WerheimerAffiliated withAbteilung für pädiatrische Genetik, Universität München

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Summary

A photoanthropometric method is presented, which enables an objective definition of facial structures. It may support the clinical description of patients with dysmorphic syndromes. Eighteen parameters were studied. The measuring points were elected on the base of anthropological criteria. The measurements were related to reference values in the same face. The obtained indices were compared to an age related control group of 100 normal children between 0 and 12 years. Values below the 3rd and above the 97th percentile were considered as dysmorphisms. The results give information on the frequency and age dependency of different dysmorphic signs.