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Night blindness, characteristic facies, and skeletal abnormalities in two brothers.
  1. A G Hunter,
  2. D R Thompson,
  3. M H Reed,
  4. A G Macrodimitris

    Abstract

    Two brothers are described with a similar physical appearance characterised by minor periorbital anomalies, malar flatness, a maxillary overbite, retrognathia, sloping shoulders, joint hyperextensibility, and minor radiological anomalies. In addition, they had a slowly progressing night blindness, myopia, and extinguished electroretinograms. The mother had mild expression of some of the physical anomalies and a decreased electroretinogram response to red light. We have been unable to find any report of similarly affected children. The possible modes of inheritance are discussed.

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