Willems P J, Rouwé C, Smit G P
Am J Med Genet. 1987 Apr;26(4):819-24. doi: 10.1002/ajmg.1320260408.
We describe a girl with extreme growth retardation of prenatal onset, short limbs, and somewhat unusual facial appearance. She represents the 6th patient with osteodysplastic primordial dwarfism type II. The distant consanguinity of the parents of this patient suggests possible autosomal recessive inheritance.
我们描述了一名产前即出现极度生长迟缓、四肢短小且面部外观有些异常的女孩。她是第6例II型骨发育不良性原始侏儒症患者。该患者父母的远亲关系提示可能为常染色体隐性遗传。