A 26-month-old child with Marden-Walker syndrome and pyloric stenosis.
A 26-month-old child with Marden-Walker syndrome and pyloric stenosis.
复制标题
一名 26 个月大的儿童，患有 Marden-Walker 综合征和幽门狭窄。
DOI：
10.1002/ajmg.1320260420
复制
发表时间：
1987
期刊：
影响因子：
--
通讯作者：
Butler,MG
中科院分区：
文献类型：
--
作者：
Gossage,D;Perrin,JM;Butler,MG
我们最近检查了一个26个月大的男孩，他有面部异常、小睑裂、间距过宽、明显的低位耳、小颌、蜘蛛性指、马蹄内翻足和关节挛缩。随后，他表现出无法茁壮成长，呼吸道感染和发育迟缓。这些先天性异常和相关发现与马尔登步行者综合征的诊断一致。他也有轻度幽门狭窄和十二指肠束带，以前没有报道过这种综合征。这种综合征似乎是一个常染色体隐性遗传性状在一些家庭。总结了16例既往发表的患者的结果。
We recently examined a 26‐month‐old boy with abnormal face, blepharophimosis, hypertelorism, apparently low‐set ears, micrognathia, arachnodactyly, talipes equinovarus, and joint contractures. Subsequently he manifested failure to thrive, respiratory infections, and developmental delay. These congenital anomalies and associated findings are consistent with a diagnosis of the Marden‐Walker syn‐drome. He also had mild pyloric stenosis and duodenal bands, not previously reported in this syndrome. This syndrome appears to be an autosomal recessive trait in some families. A summary of findings of the 16 previous published patients is presented.