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两兄弟出现夜盲、特殊面容及骨骼异常。

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

作者信息

Hunter A G, Thompson D R, Reed M H, Macrodimitris A G

出版信息

J Med Genet. 1979 Aug;16(4):309-13. doi: 10.1136/jmg.16.4.309.

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.

摘要

描述了两兄弟,他们有着相似的外貌特征,包括轻微的眶周异常、颧骨扁平、上颌前突、下颌后缩、肩部倾斜、关节过度伸展以及轻微的放射学异常。此外,他们还有缓慢进展的夜盲、近视以及视网膜电图熄灭。母亲有一些身体异常的轻度表现,对红光的视网膜电图反应降低。我们未能找到任何关于类似受影响儿童的报告。讨论了可能的遗传模式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0766/1012676/e9634b40037a/jmedgene00293-0067-a.jpg

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