Results 51 to 60 of about 61,174 (158)

Concurrence of Hirschsprung Disease and congenital duodenal obstruction

Journal of Pediatric Surgery Case Reports, 2020
Hirschsprung disease (HD), duodenal atresia, and annular pancreas are rare congenital gastrointestinal malformations. Although 18% of HD cases are associated with other malformations, little evidence exists of concurrent HD and duodenal atresia or HD and
Fatima Bawany, Ankit Patel, Christopher Gitzelmann, Derek Wakeman   +3 more
doaj   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1821-1831, August 2026.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Management of patients with combined tracheoesophageal fistula, esophageal atresia, and duodenal atresia [PDF]

, 2014
INTRODUCTIONPatients with combined esophageal atresia (EA), tracheoesophageal fistula (TEF), and duodenal atresia (DA) pose a rare management challenge.PRESENTATION OF CASEThree patients with combined esophageal atresia (EA), tracheoesophageal fistula ...
Chwals, Walter J., Nabzdyk, Christoph S., Jackson, Carl-Christian, Chiu, Bill   +3 more
core   +1 more source

Surgery for Congenital Duodenal Atresia [PDF]

Congenital duodenal atresia consists of extrinsic duodenal obstruction of annular pancreas and intrinsic obstruction of intestinal atresia. The aim of this study is to clarify clinical patterns of congenital duodenal atresia on the basis of surgical ...
Kurosaki, Nobuko, Obatake, Masayuki, Tomita, Masao, Sakai, Tsutomu   +3 more
core   +1 more source

Living Donor Liver Transplantation in Pediatric Situs Inversus: A Case Series and Systematic Review

Pediatric Transplantation, Volume 30, Issue 8, August 2026.
ABSTRACT Liver transplantation (LT) in patients with situs inversus (S‐I) is rare and technically challenging. The literature on such cases, particularly in pediatric populations, remains limited. Here, we report the surgical considerations and outcomes of two pediatric recipients with situs inversus abdominalis who underwent liver transplantation for ...
Maria F. Fernandez, Nadia Ali, Carolina Rumbo, Piyush Gupta, Kathryn LaRusso, Nada Yazigi, Christof Kaltenmeier, Juan F. Guerra, Leonardo A. Montes, Udeme Ekong, Alexander Kroemer, Dolores Garcia‐Hervas, Khalid Khan, Yuri Genyk, Cal Matsumoto, Julio Trentadue, Diego Ramisch, Pablo Barros‐Schelotto, Thomas Fishbein, Gabriel E. Gondolesi   +19 more
wiley   +1 more source

Duodenal and pyloric web in children: Clinical presentation and management

Journal of Indian Association of Pediatric Surgeons, 2022
Background: Duodenal and pyloric web (DW/PW) can present at any age, symptoms depend upon the location of the web along with the presence and size of the opening in the web. The surgical management is not straightforward always.
Shailesh Solanki, Prema Menon, Shivani Dogra, Ram Samujh   +3 more
doaj   +1 more source

Annual Report of the 2022 National Clinical Database: Decade‐Long Trends and Current Status of Gastroenterological Surgery in Japan

Annals of Gastroenterological Surgery, Volume 10, Issue 4, Page 928-959, July 2026.
ABSTRACT Aim The National Clinical Database (NCD) of Japan is the largest nationwide registry, covering over 95% of surgeries in the country. This 2022 annual report summarizes the short‐term outcomes of gastroenterological surgeries and discusses trends and insights over the past decade.
Koshi Kumagai, Arata Takahashi, Hideki Ueno, Naoki Hiki, Yoshiki Kajiwara, Tomoki Ebata, Takao Otsuka, Taro Oshikiri, Yoshihiro Kakeji, Takanori Goi, Akio Saiura, Hiroshi Saeki, Chie Tanaka, Masanori Tokunaga, Tsutomu Fujii, Satoru Matsuda, Tsunekazu Mizushima, Hiroyuki Yamamoto, Yuko Kitagawa, Ken Shirabe   +19 more
wiley   +1 more source

Duodenal atresia with ′apple-peel configuration′ of the ileum and absent superior mesenteric artery: A rare presentation

African Journal of Paediatric Surgery, 2009
According to the current understanding, duodenal atresia is considered to be a primary malformation resulting from the errors in recanalisation in early gestation. We report a rare case of duodenal atresia with apple-peel configuration of remaining small
Ahmad Ashraf, Sarda Dinesh, Joshi Prashant, Kothari Paras   +3 more
doaj  

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1696-1701, July 2026.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source