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Research Article
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.
  1. M Baraitser,
  2. R M Winter
  1. Hospital for Sick Children, London.

    Abstract

    To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.

    https://doi.org/10.1136/jmg.25.1.41

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