PT  - JOURNAL ARTICLE
AU  - Hunter, A G
AU  - Thompson, D R
AU  - Reed, M H
AU  - Macrodimitris, A G
TI  - Night blindness, characteristic facies, and skeletal abnormalities in two brothers.
AID  - 10.1136/jmg.16.4.309
DP  - 1979 Aug 01
TA  - Journal of Medical Genetics
PG  - 309--313
VI  - 16
IP  - 4
4099  - http://jmg.bmj.com/content/16/4/309.short
4100  - http://jmg.bmj.com/content/16/4/309.full
SO  - J Med Genet1979 Aug 01; 16
AB  - 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.