Beemer F A, Kozlowski K S
Clinical Genetics Center Utrecht, The Netherlands.
Am J Med Genet. 1994 Feb 1;49(3):344-7. doi: 10.1002/ajmg.1320490321.
The authors describe clinical and radiological findings in a 2-year-old boy from consanguineous parents. A diagnosis of opsi(s)modysplasia (= delayed maturation) had been made (MIM 258480). The purpose of this paper is to draw attention to the striking radiological manifestations. Consanguinity in the parents of our case and occurrence in a brother and sister in a previous report support an autosomal recessive transmission.
作者描述了一名来自近亲结婚父母的2岁男孩的临床和放射学表现。已做出骨软骨发育不全（= 成熟延迟）的诊断（MIM 258480）。本文的目的是提请注意其显著的放射学表现。我们病例中父母的近亲关系以及先前报告中在一对兄妹身上出现的情况支持常染色体隐性遗传。
