title: Night blindness, characteristic facies, and skeletal abnormalities in two brothers.
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.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D004596:Electroretinography; D005145:Face; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011859:Radiography