Results 41 to 50 of about 7,363 (165)

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

Associated malformations in newborns with imperforate anus in Gorgan, Iran (2006-10)

مجله دانشگاه علوم پزشکی گرگان, 2014
Background and Objective: Imperforate anus is a common anorectal malformation, which is associated with other anomalies. This study was done to determine the associated malformations in newborns with imperforate anus in northern Iran.
Mirfazeli A, Mohammadipour A, Baghaeian A, Sanagoo A, Nomali M   +4 more
doaj  

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

WHERE AND WHY DO WE SELECT THE TYPE AND SITE OF COLOSTOMY IN CHILDREN BELOW TWO YEARS

The Iraqi Journal of Medical Sciences, 2016
Background:Alexis Litter (1710) may be called the father of colostomy, when he made an incision in the belly and opened the ends of closed bowel to the belly surface where it never closed and preformed the function of anus for an infant suffered from ...
Salah S. Mahmood, Raghad J. Abolhab, Mohamed J. Mohamed   +2 more
doaj   +4 more sources

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

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present female pseudohermaphroditism in a prenatally diagnosed cloacal malformation. Case report: A 29-year-old, primigravid woman referred for counseling at 17 weeks of gestation because of oligohydramnios and an intra-abdominal cyst in ...
Chih-Ping Chen, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang   +3 more
doaj   +1 more source

Determinants of Healthcare Costs in Individuals With Down Syndrome: A Systematic Review

Health Science Reports, Volume 9, Issue 6, June 2026.
ABSTRACT Background Individuals with Down syndrome (DS) require specialized medical follow‐up and services more frequently than the general population, resulting in substantial healthcare costs for families and health systems. This systematic review aimed to synthesize evidence on the magnitude and determinants of direct healthcare and indirect costs ...
Shiva Tolouei Rakhshan, Sarah Byford, Mahya Razimoghadam, Fardin Moradi, Shahin Soltani   +4 more
wiley   +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