患有魏森巴赫-茨韦米勒综合征和神经管缺陷的同卵双胞胎。
Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect.
作者信息
Ramer J C, Eggli K, Rogan P K, Ladda R L
机构信息
Department of Pediatrics, Pennsylvania State University Children's Hospital, Milton S. Hershey Medical Center, Hershey 17033.
出版信息
Am J Med Genet. 1993 Mar 1;45(5):614-8. doi: 10.1002/ajmg.1320450520.
Neurologic abnormalities have been described only once previously in a child with Weissenbacher-Zweymüller syndrome (WZS), a rare skeletal dysplasia, evident neonatally. We report on identical twin male infants with skeletal findings typical of WZS, including small size at birth, proximal limb shortness, mid face hypoplasia, and myopia. In addition, twin B had a parieto occipital encephalocele while twin A had a meningocele at the same location. Twin B has had significant delays in development and hearing loss.
神经系统异常此前仅在一名患有魏森巴赫-茨韦米勒综合征（WZS）的儿童中被描述过一次，WZS是一种罕见的骨骼发育不良，在新生儿期即可明显表现出来。我们报告了一对同卵双胞胎男婴，他们具有WZS典型的骨骼表现，包括出生时体型小、近端肢体短小、面中部发育不全和近视。此外，双胞胎B患有顶枕部脑膨出，而双胞胎A在同一位置患有脑脊膜膨出。双胞胎B存在明显的发育迟缓及听力丧失。
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