Results 51 to 60 of about 10,947 (203)

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

Clinical and radiological postoperative evaluation of posterior sagittal anorectoplasty in patients with upper and intermediate anorectal malformations [PDF]

, 1997
The PSARP is today the most-used surgical technique for correction of high and intermediary anorectal malformations.There is much controversy in the literature about the post-operative evaluation of these cases.
Lederman, Henrique Manoel, Martins, Jose Luiz, Pinus, José   +2 more
core   +2 more sources

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

A Rare Case of Partial Anomalous Pulmonary Venous Return (Scimitar Syndrome) with Vaginal Agenesis and a History of Infantile Imperforated Anus

Case Reports in Clinical Practice
Scimitar syndrome is a rare congenital cardiac anomaly characterized by abnormal drainage of the right pulmonary veins into the inferior vena cava (IVC).
Maziar Karamnejad, Mahdis Nazari, Ehsan Parvas, Reza Elahi, Amir Ghaffari Jolfayi, Kyomars Abbasi   +5 more
doaj   +1 more source

The hidden mortality of imperforate anus

African Journal of Paediatric Surgery, 2013
Background: Anorectal malformations (ARMs) affect 1 in 4000-5000 births and are a big challenge in western countries. However, little is known about ARMs in Africa.
Nikki Beudeker, Emily Broadis, Eric Borgstein, Hugo A Heij   +3 more
doaj   +1 more source

The split notochord syndrome with dorsal enteric fistula, meningomyelocele and imperforate anus

The Turkish Journal of Pediatrics, 1999
A male infant was referred to our department because of lumbosacral meningomyelocele, dorsal enteric fistula and imperforate anus. The mother had received a parenteral drug containing estradiol benzoate and progesterone for inducing abortion in the ...
Hüseyin Dindar, Turan Kanmaz, Murat Çakmak, Çağrı Savaş, Selçuk Yücesan   +4 more
doaj   +1 more source

Medico-legal evaluation of the gynaecological consultation in cases of annulment presenting to the Ecclesiastical Tribunal of the Roman Curia in Malta [PDF]

, 2013
The Ecclesiastical Tribune of the Roman Curia in Malta appoints gynaecologists as medical experts to certain cases seeking annulment. These cases often essentially revolve around the confirmation or exclusion of virginity but may involve requests for ...
Buttigieg, Gabrielle, Buttigieg, George Gregory   +1 more
core  

Can Prenatal Ultrasonographic Markers Predict Enteral Feeding Tolerance in Neonates With Fetal Omphalocele?

Prenatal Diagnosis, Volume 46, Issue 1, Page 21-29, January 2026.
ABSTRACT Objective This study aimed to identify prenatal ultrasonographic predictors of enteral feeding tolerance in neonates with omphaloceles. Method This retrospective cohort study included all live‐born neonates prenatally diagnosed with omphalocele at Emma Children's Hospital/Amsterdam UMC approximately 2004–2024.
Maaike Hogerwerf, Hanna Heinrich, Merit M. Tabbers, Ramon R. Gorter, Bart G. P. Koot, Jos W. R. Twisk, Eva Pajkrt, Joep P. M. Derikx   +7 more
wiley   +1 more source

Congenital pouch colon in a male neonate

Journal of Pediatric Surgery Case Reports, 2023
Introduction: Congenital pouch colon (CPC) is a congenital malformation of the large bowel in which the entire large bowel or segments of varying lengths of the large bowel exhibit enormous dilatations in the form of a pouch communicating distally ...
Amrit Bhusal, Sagar Pokhrel, Rajesh Prasad Sah   +2 more
doaj   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source