Results 61 to 70 of about 4,923 (199)
Unusual association of anorectal malformation and macrocystic lymphatic malformation
Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2020 Anorectal malformations (ARMs) are common congenital anomalies encountered in pediatric surgery. ARMs are often associated with other anomalies. The estimated incidences of associated anomalies are 40%–70%.
Dileep Garg, Aditya Pratap Singh
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Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa
Pediatric Dermatology, EarlyView.ABSTRACT Background/Objectives Recessive dystrophic epidermolysis bullosa inversa (RDEB‐I) is a rare subtype of dystrophic epidermolysis bullosa (EB) characterized by intertriginous cutaneous involvement and frequent mucosal disease. Although mucosal involvement is recognized in RDEB‐I, its cumulative clinical burden remains poorly defined.
Valerie R. Stichert +5 more
wiley +1 more source
Dynamic graciloplasty in patients born with an anorectal malformation
, 2004 Dynamic graciloplasty in patients born with an anorectal malformation. Koch SM, Uludag O, Rongen MJ, Baeten CG, van Gemert W. Department of Surgery, University Hospital Maastricht, Maastricht, The Netherlands.
Rongen, M.J.G.M. +4 more
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American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1832-1841, August 2026.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
BMC PediatricsBackground Anorectal malformation is a common congenital problem occurring in 1 in 5,000 births and has a spectrum of anatomical presentations, requiring individualized surgical treatments for normal growth.
Qianqian Zhang +5 more
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Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1491-1497, July 2026.ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif +3 more
wiley +1 more source
Colonic atresia and anorectal malformation in a Haitian patient: a case study of rare diseases
, 2014 Introduction: Colonic atresia and anorectal malformation are rare congenital anomalies individually. Few reports of the conditions combined in a single patient have been published in the literature.
Velcek, Francisca +12 more
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A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma
Prenatal Diagnosis, EarlyView.
Shiyu Chen, Xi Tan
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Essential embryology for the Canadian pathologists’ assistant
Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 more
wiley +1 more source
Colon pouch syndrome. In the spectrum of the anorectal malformaciotions
Acta Pediátrica de México, 2014 Congenital colon pouch syndrome, is an infrequent clinical condition in which the colon is totally o partially replaced by a cystic dilatation, and is associated with an anorectal malformation; which may be a urinary tract fistula, a vaginal or vestibule
Santos Jasso Karla Alejandra +1 more
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