Results 61 to 70 of about 7,333 (175)
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
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A Retrospective Study of High‐Risk Infants: Insights From a Regional Hospital in Victoria, Australia
Journal of Paediatrics and Child Health, Volume 62, Issue 4, Page 572-578, April 2026.ABSTRACT Aim To determine the magnitude of high‐risk infants cared for at a regional hospital in Victoria, Australia and to identify the resources required to care for them. Methods A retrospective study was conducted between January 2017 and December 2019 in a regional hospital in Victoria, Australia.
Romanie Rodrigo +4 more
wiley +1 more source
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
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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
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
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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
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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
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Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula
Journal 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
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