scholarly journals A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition

2001 ◽  
Vol 42 (5) ◽  
pp. 558 ◽  
Author(s):  
Jae Lim Chung ◽  
Jong Rak Choi ◽  
Min Soo Park ◽  
Seung Hun Choi
Keyword(s):  
Imperforate Anus ◽  
Congenital Anomalies ◽  
Penoscrotal Transposition

Ring chromosome 13 in an infant with multiple congenital anomalies and penoscrotal transposition

1998 ◽  
Vol 7 (4) ◽  
pp. 299-301 ◽  
Author(s):  
Koray Boduroglu ◽  
Mehmet Alika??ifoglu ◽  
Erg??l Tun??bilek ◽  
??ebnem Uludogan
Keyword(s):  
Congenital Anomalies ◽  
Ring Chromosome ◽  
Multiple Congenital Anomalies ◽  
Chromosome 13 ◽  
Penoscrotal Transposition

Care of the Child With a Colostomy

PEDIATRICS ◽  
1977 ◽  
Vol 59 (3) ◽  
pp. 469-472
Author(s):  
Diane E. Cooney ◽  
Jay L. Grosfeld
Keyword(s):  
Imperforate Anus ◽  
Congenital Anomalies ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Benign Disease ◽  
Infants And Children ◽  
Rectal Perforation ◽  
Outpatient Program ◽  
Infancy And Childhood ◽  
Complicating Factors

Colostomy in infancy and childhood is usually performed for benign disease and is of a temporary nature. The colostomy often may be functional for 12 to 18 months, however, and therefore requires skilled care by the patient and/or his parents. The purpose of this report is to describe a combined inpatient-outpatient program of colostomy care that has resulted in improved management of infants and children with colostomies. The physician, parent, nurse, and enterostomal therapist are all intimately involved in the program. It is further intended to acquaint the pediatric physician with complicating factors related to the procedure. Colostomies in children are frequently performed to relieve colonic obstructions resulting from congenital anomalies such as Hirschsprung's disease, colon atresia, and imperforate anus, and occasionally for pelvic and perineal tumors, Crohn's disease of the colon, and instances of rectal perforation.1,2

Paediatric gastrointestinal care

2021 ◽  
pp. 395-404
Author(s):  
Jennie Burch ◽  
Brigitte Collins
Keyword(s):  
Clinical Practice ◽  
Gastrointestinal Tract ◽  
Imperforate Anus ◽  
Congenital Anomalies ◽  
Treatment Options ◽  
Gastrointestinal Diseases ◽  
Toilet Training ◽  
Developmental Issues ◽  
Presenting Symptoms ◽  
Anorectal Atresia

The paediatric gastrointestinal care chapter explores problems with the gastrointestinal tract with a focus on paediatric care. Commonly seen conditions in babies and children are described with the more frequently presenting symptoms listed for the nurse. The occurrence rates of these paediatric conditions are defined and any potential causes described. The investigations that are used to diagnose the condition are explored. Treatment options are also explored with a description of any potential complications. Issues include congenital anomalies, such as imperforate anus, also termed anorectal atresia, when a baby is born without a formed anus. Other gastrointestinal diseases that can affect children include duplication cysts, Hirschsprung’s disease, malrotation, and volvulus. Developmental issues, such as childhood toilet training, are also explored within this chapter. Succinct explorations on the issues related to children and infants can be undertaken within clinical practice by the nurse.

scholarly journals Complete Penoscrotal Transposition with Other Extragenital Anomalies in a Neonate Delivered at Term

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Ali Mahamudu Ayamba ◽  
Raymond Saa-Eru Maalman ◽  
Yaw Otchere Donkor ◽  
John Noah Anyorigiya
Keyword(s):  
Imperforate Anus ◽  
Rare Case ◽  
Term Neonate ◽  
Cardiac Malformation ◽  
Facial Deformity ◽  
Antenatal Services ◽  
Penoscrotal Transposition

A complete penoscrotal transposition (CPST) is a very uncommon congenital maldevelopment that is always associated with other abnormal body variations (malformations). We report a rare case of a term neonate delivered with CPST, which had a flaccid penis and an intact scrotum with unilateral limb and digital deformity, imperforate anus, cardiac malformation a facial deformity. Neonate died two hours after delivery. The foetal abnormality was not detected through routine antenatal services received by the mother.

Currarino syndrome and spinal dysraphism

2014 ◽  
Vol 13 (6) ◽  
pp. 685-689 ◽  
Author(s):  
Matthew J. Kole ◽  
Jared S. Fridley ◽  
Andrew Jea ◽  
Robert J. Bollo
Keyword(s):  
Imperforate Anus ◽  
Congenital Anomalies ◽  
Rare Case ◽  
Spinal Dysraphism ◽  
Tethered Cord ◽  
Tethered Cord Syndrome ◽  
Presacral Mass ◽  
Occult Spinal Dysraphism ◽  
Spinal Lipoma ◽  
Currarino Syndrome

Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult spinal dysraphism. Mutations in the MNX1 gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural spinal lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a lipoma and lower among those with a teratoma or anterior meningocele.

Atresia Ani in the Dog: A Retrospective Study

2005 ◽  
Vol 41 (5) ◽  
pp. 317-322 ◽  
Author(s):  
Maria L. Vianna ◽  
Karen M. Tobias
Keyword(s):  
Retrospective Study ◽  
Postoperative Complications ◽  
Fecal Incontinence ◽  
Imperforate Anus ◽  
Congenital Anomalies ◽  
Surgical Repair ◽  
Anal Stenosis ◽  
Type I ◽  
Type Ii ◽  
Type Iv

Congenital anomalies of the rectum and anus are rare in dogs. The most frequently reported anomaly is atresia ani. Four types of atresia ani have been reported, including congenital anal stenosis (Type I); imperforate anus alone (Type II) or combined with more cranial termination of the rectum as a blind pouch (Type III); and discontinuity of the proximal rectum with normal anal and terminal rectal development (Type IV). An increased incidence was found in females and in several breeds, including miniature or toy poodles and Boston terriers. Surgical repair is the treatment of choice, but postoperative complications can occur, including fecal incontinence and colonic atony secondary to prolonged preoperative distension.

scholarly journals Surgical management of complete penile duplication accompanied by multiple anomalies

2014 ◽  
Vol 8 (9-10) ◽  
pp. 741 ◽  
Author(s):  
Irfan Karaca ◽  
Erdal TURK ◽  
A. Basak Ucan ◽  
Derya Yayla ◽  
Gulcin Itirli ◽  
...  
Keyword(s):  
Surgical Management ◽  
Imperforate Anus ◽  
Congenital Anomalies ◽  
Symphysis Pubis ◽  
Rectal Duplication

Diphallus (penile duplication) is very rare and seen once every 5.5 million births. It can be isolated, but is usually accompanied by other congenital anomalies. Previous studies have reported many concurrent anomalies, such as bladder extrophy, cloacal extrophy, duplicated bladder, scrotal abnormalities, hypospadias, separated symphysis pubis, intestinal anomalies and imperforate anus; no penile duplication case accompanied by omphalocele has been reported. We present the surgical management of a patient with multiple anomalies, including complete penile duplication, hypogastric omphalocele and extrophic rectal duplication.

scholarly journals Burden of Neonatal Surgical Conditions in Northern Ghana

2019 ◽  
Vol 44 (1) ◽  
pp. 3-11 ◽  
Author(s):  
Alhassan Abdul-Mumin ◽  
Theophilus T. K. Anyomih ◽  
Sheila A. Owusu ◽  
Naomi Wright ◽  
Janae Decker ◽  
...  
Keyword(s):  
Neonatal Mortality ◽  
Imperforate Anus ◽  
Congenital Anomalies ◽  
Neonatal Intensive Care ◽  
Digestive System ◽  
Low Birthweight ◽  
Descriptive Analysis ◽  
Northern Ghana ◽  
Middle Income ◽  
Surgical Conditions

Abstract Background Congenital anomalies have risen to become the fifth leading cause of under-five mortality globally. The majority of deaths and disability occur in low- and middle-income countries including Ghana. This 3-year retrospective review aimed to define, for the first time, the characteristics and outcomes of neonatal surgical conditions in northern Ghana. Methods A retrospective study was conducted to include all admissions to the Tamale Teaching Hospital (TTH) neonatal intensive care unit (NICU) with surgical conditions between January 2014 and January 2017. Data were collected on demographics, diagnosis and outcomes. Descriptive analysis was performed on all data, and logistic regression was used to predict determinants of neonatal mortality. p < 0.05 was deemed significant. Results Three hundred and forty-seven neonates were included. Two hundred and sixty-one (75.2%) were aged 7 days or less at presentation, with males (n = 177, 52%) slightly higher than females (n = 165, 48%). The majority were delivered by spontaneous vaginal delivery (n = 247, 88%); 191 (58%) were born in hospital. Congenital anomalies accounted for 302 (87%) of the neonatal surgical cases and 45 (96%) deaths. The most common anomalies were omphalocele (n = 48, 13.8%), imperforate anus (n = 34, 9.8%), intestinal obstruction (n = 29, 8.4%), spina bifida (n = 26, 7.5%) and hydrocephalus (n = 19, 5.5%). The overall mortality rate was 13.5%. Two-thirds of the deaths (n = 30) from congenital anomalies were conditions involving the digestive system with gastroschisis having the highest mortality of 88%. Omphalocele (n = 11, 23.4%), gastroschisis (n = 7, 14.9%) and imperforate anus (n = 6, 12.8%) contributed to the most deaths. On multivariate analysis, low birthweight was significantly associated with mortality (OR 3.59, CI 1.4–9.5, p = 0.009). Conclusion Congenital anomalies are a major global health problem associated with high neonatal mortality in Ghana. The highest burden in terms of both caseload and mortality is attributed to congenital anomalies involving the digestive system, which should be targeted to improve outcomes.

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