Results 81 to 90 of about 10,947 (203)

Treatment of Congenital Rectal Fistulae Associated with Imperforate Anus in Females

open access: yesIndian 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

From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders [PDF]

open access: yes, 2009
BACKGROUND: The ZIC3 gene functions as a transcription factor in early stages of left-right body axis formation. Mutations in ZIC3 gene cause a variety of clinical manifestations including isolated congenital heart disease (CHD), heterotaxy & other ...
Chitayat, D   +3 more
core  

Pattern and Factors Associated with Congenital Anomalies among Young Infants Admitted at Bugando Medical Centre, Mwanza, Tanzania. [PDF]

open access: yes, 2014
Congenital anomalies or birth defects are among the leading causes of infant mortality and morbidity around the world. The impact of congenital anomalies is particularly severe in middle- and low-income countries where health care resources are limited ...
Chalya, Phillipo L   +4 more
core   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B ‐Related Disorders: Case Series and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione   +12 more
wiley   +1 more source

Studies of Marine Bryozoa. IX, Phylactellipora [PDF]

open access: yes, 1957
Author Institution: Department of Biology, College of New Rochelle, New Rochelle, New ...
Rogick, Mary Dora
core  

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]

open access: yes, 2014
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S   +4 more
core   +1 more source

Variable Expressivity in Johanson‐Blizzard Syndrome: A Case With Severe Manifestations and a Review of the Literature

open access: yesJGH Open, Volume 9, Issue 8, August 2025.
ABSTRACT Background Johanson‐Blizzard syndrome (JBS) is an exceedingly rare, autosomal recessively inherited disorder. It affects both males and females equally. Exocrine pancreatic insufficiency is the most common finding of the syndrome. The clinical presentation varies significantly among cases.
Hanaa Ktyman   +4 more
wiley   +1 more source

Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula

open access: yesJournal 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   +3 more
doaj  

Primary presacral neuroendocrine tumor associated with imperforate anus

open access: yesWorld Journal of Surgical Oncology, 2007
Background Presacral masses are unusual growths that have a limited differential diagnosis, typically not including neuroendocrine tumors (NETs). Classically, NETs are well-differentiated gastroenteropancreatic tumors of probable benign behavior.
Liu Chen   +3 more
doaj   +1 more source

Glucagon‐like peptide 1 (GLP‐1) receptor agonists' use during pregnancy: Safety data from regulatory clinical trials

open access: yesDiabetes, Obesity and Metabolism, Volume 27, Issue 8, Page 4102-4108, August 2025.
Abstract Aims The prevalence of diabetes and obesity continues to rise in women of reproductive age, with significant implications for both mother and foetus. Glucagon‐like peptide‐1 receptor agonists are effective treatments of diabetes and obesity. However, no Glucagon‐like peptide‐1 receptor agonists are currently approved for use during pregnancy ...
Claire H. Parker   +3 more
wiley   +1 more source

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