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Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures
  1. Robin M Winter,
  2. Dian Donnai†,
  3. Martin d'A Crawfurd
  1. *The Kennedy Galton Centre, Harperbury Hospital, Harper Lane, Radlett, Hertfordshire WD7 9HQ
  2. *The Division of Inherited Metabolic Diseases, Clinical Research Centre, Northwick Park Hospital, Watford Road, Harrow, Middlesex HA1 3UJ
  3. †The Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH

    Abstract

    Three infants are described, one with the Neu-Laxova syndrome and two with the cerebro-oculo-facio-skeletal (COFS) syndrome. The relationship between these two syndromes is discussed in the light of the present cases and others in published reports.

    https://doi.org/10.1136/jmg.18.2.129

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