Results 81 to 90 of about 31,999 (216)
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex): A case report
, 2015 Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) is an extremely rare combination of serious defects, which was firstlydescribed by Carey and colleagues. Surgical repair of cloacal exctrophy in patientswith OEIS complex
M. Kaya +3 more
semanticscholar +1 more source
A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report
Einstein, 2014 A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature,
K. Yamaçake +3 more
semanticscholar +1 more source
Case Reports in Ophthalmological Medicine, Volume 2025, Issue 1, 2025.Goldenhar syndrome (GS), also known as Franceschetti–GS, encompasses a spectrum of congenital anomalies affecting the eyes, ears, face, and vertebrae. This case report highlights a 2‐day‐old female patient diagnosed with GS presenting a rare manifestation of bilateral complete eyelid colobomas.
Rawan S. Utt +6 more
wiley +1 more source
Journal of Cellular Physiology, Volume 239, Issue 12, December 2024.Abstract Ulnar mammary syndrome (UMS) results from heterozygous variants in the TBX3 gene and impacts limb, tooth, hair, apocrine gland, and genitalia development. The expressivity of UMS is highly variable with no established genotype–phenotype correlations.
Irene Bottillo +12 more
wiley +1 more source
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
Short‐ and Long‐Term Outcomes of Prenatally Identified Congenital Aqueductal Stenosis by Fetal MRI
Prenatal Diagnosis, Volume 44, Issue 13, Page 1574-1584, December 2024.ABSTRACT Objective Providing accurate prenatal prognostication for expectant parents is challenging due to limited literature on factors impacting outcomes in children with congenital aqueductal stenosis (CAS). This study stratified CAS patients into isolated or complex categories (presence of additional intra‐ or extra‐cranial anomalies or genetic ...
Noah J. Smith +5 more
wiley +1 more source
Rectocutaneous fistula with imperforate anus in an adult.
Singapore medical journal, 2013 Adult presentation of a rectocutaneous fistula with imperforate anus is rare. We report the case of a 22-year-old man who presented with an anorectal malformation and a rectocutaneous fistula.
K. Duman +3 more
semanticscholar +1 more source
Revisiting Imperforate Anus in Delivery Rooms. [PDF]
J Obstet Gynaecol India, 2023 Khare C.
europepmc +1 more source
Imperforate anus with a rectovestibular fistula and pseudotail: a case report
Journal of Medical Case Reports, 2010 Introduction Human tails and pseudotails are rare sacrococcygeal lesions that are associated with a wide variety of anomalies and syndromes. Anorectal malformations are also relatively uncommon congenital defects that often occur in conjunction with ...
Jackson Gretchen P +2 more
doaj +1 more source