一名婴儿患有睑裂狭小、内眦间距增宽、小口畸形及耳部异常（西莫萨综合征）。
Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant.
作者信息
Suri M, Kabra M, Verma I C
机构信息
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
出版信息
Am J Med Genet. 1994 Jul 1;51(3):222-3. doi: 10.1002/ajmg.1320510309.
PMID:8074148
Abstract
We report on a 1-month-old infant with blepharophimosis, telecanthus, ear anomalies, and microstomia. He also had a long philtrum and a narrow, high-arched palate. This case is very similar to the cases reported by Simosa et al. [1989: Am J Med Genet 32:184-186]. In addition, our patient had tongue tie and camptodactyly of fingers.
摘要
我们报告了一名1个月大的婴儿，患有睑裂狭小、内眦间距增宽、耳部异常和小口畸形。他还伴有长人中及狭窄、高拱的腭部。该病例与Simosa等人[1989年：《美国医学遗传学杂志》32:184 - 186]报道的病例非常相似。此外，我们的患者还患有舌系带过短和手指屈曲挛缩。
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