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210833

Anorectal Malformation: An Atypical Association of Pierre Robin Sequence

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Last updated: 04 Jan 2025

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Abstract

Isolated Pierre Robin sequence (PRS) is characterized by underdeveloped jaw, backward displacement of the tongue and upper airway obstruction with or without cleft palate or be part of a known syndrome as VACTREL or CHARGE, or be associated with other malformations as congenital heart disease, lung malformations, musculoskeletal system anomalies, and hereditary progressive arthro-ophthalmopathy.  We report a neonate with PRS who presented by choanal atresia, sepsis, single ventricle, large ventricular septal defect; large patent ductus arteriosus, anorectal malformation in the form of high imperforate anus and rectovesical fistula. Anorectal malformation was not previously reported in Pierre Robin sequence. We report that single ventricle and anorectal malformation are  rare associations of PRS. Examination for anorectal malformation, prompt diagnosis and initiation of specific management is life-saving in any neonate and especially in those with structural malformations or deformities of PRS.  

DOI

10.21608/cupsj.2021.100238.1031

Keywords

Pierre robin sequence, Anorectal malformation, Ventricular Septal defect, Congenital heart disease, rectovesical fistula

Authors

First Name

Manal

Last Name

Farouk

MiddleName

-

Affiliation

Department of Pediatric Surgery, Faculty of Medicine, Cairo University, Egypt

Email

manal.m.mahmoud93@gmail.com

City

Cairo

Orcid

0000-0001-6439-1790

First Name

Sherif Nabhan

Last Name

Kaddah

MiddleName

-

Affiliation

Department of Pediatric Surgery, Faculty of Medicine, Cairo University, Egypt

Email

sherifkaddah@kasralainy.edu.eg

City

Cairo

Orcid

-

First Name

Magd A.

Last Name

Kotb

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

magdkotb@kasralainy.edu.eg

City

-

Orcid

https://orcid.org/00

Volume

2

Article Issue

1

Related Issue

29646

Issue Date

2022-01-01

Receive Date

2021-10-17

Publish Date

2022-01-01

Page Start

104

Page End

107

Print ISSN

2805-279X

Online ISSN

2682-3985

Article File

CUPSJ_Volume 2_Issue 1_Pages 104-107.pdf

PDF . 857.1kB

Link

https://cupsj.journals.ekb.eg/article_210833.html

Detail API

https://cupsj.journals.ekb.eg/service?article_code=210833

Order

14

Type

Case Report

Type Code

1,279

Publication Type

Journal

Publication Title

Pediatric Sciences Journal

Publication Link

https://cupsj.journals.ekb.eg/

MainTitle

Anorectal Malformation: An Atypical Association of Pierre Robin Sequence

Details

Type

Article

Created At

22 Jan 2023