Results 61 to 70 of about 7,333 (167)

Syndromes and Disorders Associated with Omphalocele (II): OEIS Complex and Pentalogy Of Cantrell

Taiwanese Journal of Obstetrics & Gynecology, 2007
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is characterized by a combination of omphalocele, exstrophy of the bladder, an imperforate anus, and spinal defects. Pentalogy of Cantrell is characterized by a combination of a midline
Chih-Ping Chen
doaj   +1 more source

Genetic correlations and clinical value of increased renal echogenicity in fetuses identified by prenatal ultrasonography

Precision Medical Sciences, Volume 15, Issue 1, Page 35-41, March 2026.
The corresponding images are as follows: enhanced fetal renal echo, enhanced fetal renal echo complicated with hydronephrosis, cardiac abnormality, chromosome microarray analysis: microdeletion of chromosome 17, whole‐exome sequencing: microdeletion of chromosome 17.
Haihong Liu, Yun Wu, Li Cao, Ting Zhou, LiJun Wu   +4 more
wiley   +1 more source

The Imperforate Anus Psychosocial Questionnaire (IAPSQ): Its construction and psychometric properties

Child and Adolescent Psychiatry and Mental Health, 2009
The origin of the present study was to develop the liaison work between the disciplines of child and adolescent psychiatry and paediatric surgery and nursing, so as to improve the quality of treatment and care of a group of children with imperforate anus
Christensson Kyllike, Brodin Ulf, Nisell Margret, Rydelius Per-Anders   +3 more
doaj   +1 more source

Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2017
Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS).
Dong-Yoon Yoo, Hae Jung Kim, Kee Hyun Cho, Eun Byul Kwon, Eun-Gyong Yoo   +4 more
doaj   +1 more source

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 291-299, February 2026.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula

Journal of Indian Association of Pediatric Surgeons, 2009
The association of rectal diaphragm in an imperforate anus has not been reported until now. A 1-year-old male presented with right transverse colostomy for high anorectal malformation.
Thakur Ashokanand, Dhende N, Mane S, Acharya Himanshu   +3 more
doaj  

Efficacy of Anti‐Adhesive Barriers on Outcomes Following Pediatric Abdominal Surgery: A Systematic Review and Meta‐Analysis

Health Science Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background and Aims The efficacy of anti‐adhesive barriers in preventing clinically significant adhesional small bowel obstruction (ASBO) in the pediatric population is poorly defined. This review seeks to evaluate the utility of anti‐adhesive barriers in pediatric populations undergoing abdominopelvic surgery.
Khang Duy Ricky Le, Shasha Haycock, Annie Jiao Wang   +2 more
wiley   +1 more source

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study

Prenatal Diagnosis, Volume 46, Issue 2, Page 219-228, February 2026.
ABSTRACT Objective To describe prenatal imaging findings and postnatal outcomes in fetuses diagnosed with saccular forms of closed spinal dysraphism (CSD). Methods This retrospective single‐centre study included fetuses diagnosed with non‐genetic, non‐syndromic CSD between January 2018 and June 2023.
Yada Kunpalin, Jennifer Quon, Abby Varghese, Michael Chua, Samer Maher, Abhaya V. Kulkarni, Tim Van Mieghem, Shiri Shinar, Elka Miller   +8 more
wiley   +1 more source

Treatment of Congenital Rectal Fistulae Associated with Imperforate Anus in Females

Indian Journal of Plastic Surgery, 1972
The results of perineal proctoplasty in 10 cases of congenital low rectal fistulas associated with imperforate anus in female babies have been presented.
A. K. Waklu, R. K. Tandon
doaj   +1 more source