Results 51 to 60 of about 5,647 (173)
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 +3 more
doaj +1 more source
Normal Anal Sensibility in Patients Born With Anorectal Malformations
Neurogastroenterology &Motility, Volume 37, Issue 4, April 2025.Normal anal sensibility can be present in ARM patients diagnosed with all types of ARM after they have been treated with corrective surgery. Anal sensibility was better in those with a functional IAS. This means that the IAS, present in the distal end of the fistula, should be spared as much as possible to preserve anal sensibility. In this way, aiming
Venla E. C. den Hollander +2 more
wiley +1 more source
Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2017 Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS).
Dong-Yoon Yoo +4 more
doaj +1 more source
Controlling wave function localization in a multiple quantum well structure [PDF]
, 2012 The dynamics of a wave function describing a particle confined in a multiple quantum well potential is studied numerically. As a consequence of quantum mechanical tunneling, an initial wavefunction designed to be localized in one well can localize in the others after a certain time and hop between wells at times which depends on the height and width of
arxiv +1 more source
CTNND1‐Related Disorder: New Insight on Prenatal Phenotype
American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.ABSTRACT CTNND1 is a gene located in 11q12.1, encoding for p120 catenin, a protein involved in maintaining adherent junctions, regulating the epithelial–mesenchymal transition, and transcriptional signaling of different cellular pathways. Pathogenic variants in CTNND1 are classically associated with isolated cleft palate and Blefaro‐cheilo‐dontic ...
B. Conti +12 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 +4 more
doaj
Syndromes and Disorders Associated with Omphalocele (II): OEIS Complex and Pentalogy Of Cantrell
Taiwanese Journal of Obstetrics & Gynecology, 2007 Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is characterized by a combination of omphalocele, exstrophy of the bladder, an imperforate anus, and spinal defects. Pentalogy of Cantrell is characterized by a combination of a midline
Chih-Ping Chen
doaj +1 more source
Associated Anomalies in Radial Ray Deficiency
American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.ABSTRACT Radial ray deficiency (RRD) may be isolated, without other congenital anomalies or co‐occurring with other, non‐RRD, congenital anomalies. The prevalence and the types of co‐occurring anomalies are variable in the reported studies. The aim of this study was to obtain the prevalence and the types of co‐occurring congenital anomalies among cases
Claude Stoll +2 more
wiley +1 more source
Child and Adolescent Psychiatry and Mental Health, 2009 The origin of the present study was to develop the liaison work between the disciplines of child and adolescent psychiatry and paediatric surgery and nursing, so as to improve the quality of treatment and care of a group of children with imperforate anus
Christensson Kyllike +3 more
doaj +1 more source
Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology
Developmental Dynamics, Volume 254, Issue 2, Page 102-141, February 2025.Abstract The ventral body wall (VBW) that encloses the thoracic and abdominal cavities arises by extensive cell movements and morphogenetic changes during embryonic development. These morphogenetic processes include embryonic folding generating the primary body wall; the initial ventral cover of the embryo, followed by directed mesodermal cell ...
Caroline Formstone +3 more
wiley +1 more source