Novel abdomino-pelvic anomalies in Kagami-Ogata syndrome

被引：0

作者：

Lamiman, Kelly ^{[1
]}

Mavratsas, Vasilis ^{[2
]}

Gupta, Tanvi ^{[2
]}

Cooney, Erin ^{[3
]}

Lee, G. Toy ^{[1
]}

Cummins, Claire ^{[4
]}

Gorman, Brendan ^{[4
]}

Gerber, Jonathan ^{[4
]}

Radhakrishnan, Ravi ^{[4
]}

机构：

[1] Univ Texas Med Branch, Dept Obstet & Gynecol, Galveston, TX 77555 USA

[2] Univ Texas Med Branch, Sch Med, Galveston, TX 77555 USA

[3] Univ Texas Med Branch, Dept Pediat, Galveston, TX 77555 USA

[4] Univ Texas Med Branch, Dept Surg, Galveston, TX 77555 USA

来源：

JOURNAL OF PEDIATRIC SURGERY CASE REPORTS | 2021年 / 75卷

关键词：

Kagami-ogata syndrome; Congenital diaphragmatic hernia; Rectocele; Imprinting disorder; CONGENITAL DIAPHRAGMATIC-HERNIA;

D O I：

10.1016/j.epsc.2021.102045

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Kagami-Ogata syndrome (KOS) is a rare genomic imprinting disorder of chromosome 14 with characteristic facial features, a small, bell-shaped thorax, muscular hypotonia, and abdominal wall defects. We present a case of a kidney incarcerated in a posterolateral Bochdalek type congenital diaphragmatic hernia (CDH), intestinal malrotation and stage 2 rectocele in KOS. Successful repair of CDH and malrotation was achieved with Ladd's procedure, CDH repair, Nissen fundoplication and gastrostomy tube placement. She had no post-operative complications and is currently tolerating 100% enteral feeds. CDH, intestinal malrotation and rectocele have not been previously reported in KOS. Despite overall poor prognosis, KOS patients with CDH and malrotation can be repaired successfully with improvement in quality of life.

引用

页数：5

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