Night blindness, characteristic facies, and skeletal abnormalities in two brothers.

نویسندگان

  • A G Hunter
  • D R Thompson
  • M H Reed
  • A G Macrodimitris
چکیده

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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عنوان ژورنال:
  • Journal of medical genetics

دوره 16 4  شماره 

صفحات  -

تاریخ انتشار 1979