Results 71 to 80 of about 9,985 (212)
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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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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گزارش 11 مورد نتايج جراحی بیاختياری مدفوع به علت جابجايی رکتوم در کودکان مقعد بسته متعاقب عمل آنورکتوپلاستی [PDF]
, 2010 مينه و هدف: بیاختياری مدفوع متعاقب عمل آنورکتوپلاستی در بيماران مقعد بسته، يکی از عوارض اين عمل در کودکان به شمار میآيد. جابجايی رکتوم و نقص عضله اسفنکتر از علل نسبتاً شايع بیاختياری مدفوع متعاقب عمل آنورکتوپلاستی در بيماران مقعد بسته میباشد.
دلشاد, صلاح الدین
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LIMB BODY WALL COMPLEX IN TWO HETEROZYGOTIC TWINS: A CASE REPORT [PDF]
, 2011 Introdution. Limb-Body Wall Complex (LBWC) is a congenital defect which includes at least two of the following characteristics: abdominal and/or thoracic body wall defects, exencephaly or encephalocoele with or without craniofacial defects (56%) and ...
Angotti, R +4 more
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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
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Health Science Reports, Volume 9, Issue 2, February 2026.ABSTRACT Background and Aims The efficacy of anti‐adhesive barriers in preventing clinically significant adhesional small bowel obstruction (ASBO) in the pediatric population is poorly defined. This review seeks to evaluate the utility of anti‐adhesive barriers in pediatric populations undergoing abdominopelvic surgery.
Khang Duy Ricky Le +2 more
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Studies of Marine Bryozoa. IX, Phylactellipora [PDF]
, 1957 Author Institution: Department of Biology, College of New Rochelle, New Rochelle, New ...
Rogick, Mary Dora
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Prenatal Diagnosis, Volume 46, Issue 2, Page 219-228, February 2026.ABSTRACT Objective To describe prenatal imaging findings and postnatal outcomes in fetuses diagnosed with saccular forms of closed spinal dysraphism (CSD). Methods This retrospective single‐centre study included fetuses diagnosed with non‐genetic, non‐syndromic CSD between January 2018 and June 2023.
Yada Kunpalin +8 more
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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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