两例同胞出现眼睑下垂、斜视、腹直肌分离、髋关节缺陷、隐睾症及发育迟缓。
Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs.
作者信息
Carnevale F, Krajewska G, Fischetto R, Greco M G, Bonvino A
机构信息
Department of Pediatrics, University of Bari, Italy.
出版信息
Am J Med Genet. 1989 Jun;33(2):186-9. doi: 10.1002/ajmg.1320330210.
PMID:2569826
Abstract
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.
摘要
我们报告了两兄弟出现的一种独特综合征，包括眼睑下垂、内斜视、腹肌缺损、髋关节脱位、隐睾症和发育迟缓。其父母近亲结婚提示为常染色体隐性遗传。
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