Fuhrmann W, Fuhrmann-Rieger A, de Sousa F
Eur J Pediatr. 1980 Mar;133(2):123-9. doi: 10.1007/BF00441580.
An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include: hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of tarsal bones, absence of various metatarsals, hypoplasia and aplasia of toes, clinodactyly, hypoplasia of fingers and fingernails, and postaxial polydactyly. Consanguinity is denied, but the fact that both parents belong to the same Christian minority from the same province may indicate common ancestry. Autosomal recessive inheritance is presumed.
据报道，在一个有土耳其 - 阿拉伯血统的家庭中的3名兄弟姐妹（2名男孩，1名女孩）身上出现了一种显然迄今为止未被描述过的严重骨骼综合征。主要表现包括：骨盆发育不全、先天性髋关节脱位、股骨严重弓形弯曲、腓骨发育不全或发育不良、跗骨缺如或融合、多种跖骨缺如、脚趾发育不全和缺如、手指弯曲、手指和指甲发育不全以及轴后多指（趾）畸形。否认有近亲结婚情况，但父母双方来自同一省份的同一个基督教少数群体这一事实可能表明有共同的祖先。推测为常染色体隐性遗传。
