Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, New Delhi, 110029, India.
Arch Gynecol Obstet. 2011 Mar;283 Suppl 1:27-9. doi: 10.1007/s00404-010-1703-y. Epub 2010 Oct 12.
Pena-Shokeir syndrome is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (micrognathia), camptodactyly, polyhydramnios and lung hypoplasia.
We report prenatal ultrasonographic, antenatal MR and postnatal examination findings of a fetus with Pena-Shokeir syndrome.
Pena-Shokeir syndrome is a potentially lethal condition and most cases are diagnosed prenatally by ultrasound. Fetal MR can be performed to look associated neurological malformation.
Pena-Shokeir 综合征是一种常染色体隐性遗传病，其特征为关节挛缩、面部异常（小颌畸形）、指（趾）屈曲畸形、羊水过多和肺发育不良。
我们报告了一例 Pena-Shokeir 综合征胎儿的产前超声、产前磁共振成像（MRI）和产后检查结果。
Pena-Shokeir 综合征是一种潜在致命的疾病，大多数病例通过超声在产前诊断。可进行胎儿磁共振成像（MRI）检查以寻找相关的神经畸形。
