Hunter A G
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
J Med Genet. 1988 Dec;25(12):854-7. doi: 10.1136/jmg.25.12.854.
A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most marked over the extremities, and osteoporosis which may be associated with fractures and vertebral collapse.
本文报告了一名患有轻度骨皮肤发育异常症的女孩，旨在提高对这种可能诊断不足的常染色体隐性疾病的关注度。该综合征的重要体征包括面部下垂、双下巴，伴有一定程度的颧骨发育不全和下颌前突，皮肤松弛但无弹性过度，在四肢最为明显，以及可能与骨折和椎体塌陷相关的骨质疏松症。
