Niikawa N, Matsuda I, Ohsawa T, Kajii T
Hum Genet. 1978 Jun 9;42(2):227-32. doi: 10.1007/BF00283643.
Two Japanese siblings, a 2-year-old girl and a 7-month-old boy, had a syndrome of mental retardation, severe nasal hyp9plasia, peripheral dysostosis, and blue eyes. The mother showed nasal hyp9plasia of lesser degree and a mild form of peripheral dysostosis. This disorder bears a striking similarity to acrodysostosis, but in view of certain novel features its relationship to the disease is uncertain. The mode of inheritance could be either dominant with variable expressivity or autosomal recessive.
两名日本兄妹，一名2岁女孩和一名7个月大的男孩，患有智力发育迟缓、严重鼻发育不全、外周性骨发育异常和蓝眼睛综合征。母亲表现出程度较轻的鼻发育不全和轻度外周性骨发育异常。这种病症与肢端骨发育不全有显著相似之处，但鉴于某些新特征，其与该疾病的关系尚不确定。遗传方式可能是具有可变表达性的显性遗传或常染色体隐性遗传。
