| Literature DB >> 314984 |
A G Hunter, D R Thompson, M H Reed, 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.Entities:
Mesh:
Year: 1979 PMID: 314984 PMCID: PMC1012676 DOI: 10.1136/jmg.16.4.309
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318