Results 61 to 70 of about 7,363 (177)
Precision Medical Sciences, Volume 15, Issue 1, Page 35-41, March 2026.The corresponding images are as follows: enhanced fetal renal echo, enhanced fetal renal echo complicated with hydronephrosis, cardiac abnormality, chromosome microarray analysis: microdeletion of chromosome 17, whole‐exome sequencing: microdeletion of chromosome 17.
Haihong Liu +4 more
wiley +1 more source
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
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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
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Pentalogy of Fallot with Anorectal Malformation: A Case Report
Journal of Nepal Medical AssociationPentalogy 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 +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 +3 more
doaj +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
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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 +2 more
doaj +1 more source
Imperforate anus, multiple intestinal atresia and unilateral facial hypoplasia: A case series
Journal of Pediatric Surgery Case ReportsIntroduction: Imperforate anus and intestinal atresia are rare but well understood congenital disorders which affect the alimentary tract. Like intestinal atresia, facial hypoplasia is another congenital anomaly likely secondary to a vascular injury in ...
Joy Ayemoba +2 more
doaj +1 more source