Gershoni-Baruch R, Drugan A, Bronshtein M, Zimmer E Z
Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
Am J Med Genet. 1990 Dec;37(4):569-72. doi: 10.1002/ajmg.1320370430.
We report on a syndrome of tetra-amelia, facial clefts, absence of ears, nose, and atresia ani, affecting 7 male infants or fetuses in one Arab Moslem kindred. The combination of anomalies described in each affected member is consistent with Roberts syndrome and the prevalence of intermarriage in this kindred could suggest an autosomal recessive mode of inheritance. Alternatively, the existence of a new syndrome, namely, "X-linked amelia" is proposed.
我们报告了一种四肢缺如、面部裂隙、无耳、无鼻及肛门闭锁综合征，该综合征影响了一个阿拉伯穆斯林家族中的7名男婴或胎儿。每个患病成员所描述的异常组合与罗伯茨综合征一致，并且该家族中近亲结婚的情况可能提示常染色体隐性遗传模式。另外，有人提出存在一种新的综合征，即“X连锁性肢体缺如”。
