Results 61 to 70 of about 7,363 (165)

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

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

Colonic atresia associated with imperforate anus in a patient with down syndrome, expect the unexpected

Journal of Pediatric Surgery Case Reports, 2018
We are describing an extremely rare clinical case of two congenital anomalies coexist simultaneously in a full term 18 months-old girl, known down syndrome with imperforate anus.
Ahmed Alahmari, Jamila Al Maary
doaj   +1 more source

Pentalogy of Fallot with Anorectal Malformation: A Case Report

Journal of Nepal Medical Association
Pentalogy of Fallot is a rare form of congenital cyanotic heart disease with a prevalence of 3/10,000 live births characterized by an association of Tetralogy of Fallot with Atrial Septal Defect. Pentalogy of Fallot with anorectal malformation is also a
Sunil Raja Maharjan, Pankaj Kafle, Ashish Lal Shrestha, Dipendra Rai   +3 more
doaj   +1 more source

Primary presacral neuroendocrine tumor associated with imperforate anus

World 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, Grobmyer Stephen R, Kim Tad, Hochwald Steven N   +3 more
doaj   +1 more source

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

JPGN Reports, Volume 7, Issue 2, Page 340-348, May 2026.
Jamie M. Klapp, Lauren Nichols, Nicholas J. Gloude, Amber Hildreth, Kathleen B. Schwarz   +4 more
wiley   +1 more source

Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

Prenatal Diagnosis, Volume 46, Issue 4, Page 589-592, April 2026.
Haley M. Crane, Rose Giardine, Alanna Strong, K. Taylor Wild, Elaine Zackai, Lorraine Dugoff, Teresa N. Sparks, Beverly Coleman, Julie S. Moldenhauer   +8 more
wiley   +1 more source

OEIS complex with a vesico-enteric fistula

Journal of Pediatric Surgery Case Reports, 2018
OEIS complex describes a combination of serious birth defects, including omphalocele, exstrophy of the bladder, imperforate anus, and spinal defects. The complex may be associated with birth defects involving almost every organ system.
Moaied A. Hassan
doaj   +1 more source

Revisiting Imperforate Anus in Delivery Rooms. [PDF]

J Obstet Gynaecol India, 2023
Khare C.
europepmc   +1 more source

Evaluation of an experimental model for anorectal anomalies induced by ethylenethiourea Avaliação de um modelo experimental de anomalia anorretal induzida pela etilenotiouréia

Acta Cirúrgica Brasileira, 2007
PURPOSE: To evaluate an experimental model for anorectal anomalies and their principal associated malformations induced by ethylene thiourea (ETU). METHODS: Rat fetuses were utilized, divided into two groups: experimental group - fetuses from rats that ...
Maurício Macedo, José Luiz Martins, Karine Furtado Meyer   +2 more
doaj   +1 more source