PTOSIS OF EYELIDS, STRABISMUS, DIASTASIS RECTI, HIP DEFECT, CRYPTORCHIDISM, AND DEVELOPMENTAL DELAY IN 2 SIBS
PTOSIS OF EYELIDS, STRABISMUS, DIASTASIS RECTI, HIP DEFECT, CRYPTORCHIDISM, AND DEVELOPMENTAL DELAY IN 2 SIBS
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DOI：
10.1002/ajmg.1320330210
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发表时间：
1989-06-01
期刊：
影响因子：
--
通讯作者：
BONVINO, A
中科院分区：
文献类型：
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作者：
CARNEVALE, F;KRAJEWSKA, G;BONVINO, A
我们报告一个明显的症状，眼睑下垂，收敛性斜视，腹肌缺陷，髋关节脱位，隐睾症和发育迟缓的两兄弟。他们父母的血缘关系意味着常染色体隐性遗传。
We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers. Consanguinity in their parents suggests autosomal recessive inheritance.