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[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2025
Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Objective: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.
Methods: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed.
Spigelian hernia and cryptorchidism syndrome: open spigelian hernia repair and laparoscopic one-stage orchiopexy for ectopic testis.
BMJ Case Rep
January 2025
Pediatric Surgical Services, Mary Bridge Children's Hospital and Health Center, Tacoma, Washington, USA
Spigelian hernia and cryptorchidism syndrome in children is increasingly reported in the literature. A variety of phenotypes have been reported, so diagnostic approaches and operative techniques remain poorly defined. The case of an infant male who presented with a left spigelian hernia and ipsilateral cryptorchidism who was initially misdiagnosed with an ectopic inguinal testis is presented.
View Article and Find Full Text PDFOutcomes of Growth-Friendly Surgical Treatment of Early Onset Scoliosis in Children With Prune Belly Syndrome: A Preliminary Report.
J Pediatr Orthop
December 2024
Department of Orthopaedic Surgery, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI.
Background: Prune belly syndrome (PBS) is a rare condition characterized by absence of abdominal musculature, cryptorchidism, and obstructive uropathy. The most common orthopaedic problem is scoliosis, yet no reports on growth-friendly surgical treatment of early-onset scoliosis (EOS) exist. Our purpose was to evaluate outcomes of distraction-based implants in children with PBS.
View Article and Find Full Text PDFPersistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.
Diagnostics (Basel)
November 2024
Endocrinology Department, Elias Emergency University Hospital, 011461 Bucharest, Romania.
: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.
View Article and Find Full Text PDFAudiologic Outcomes After Cochlear Implantation in Prelingually Deaf Children Who Have Combined Anomalies or Disabilities.
Otol Neurotol
January 2025
Department of Otorhinolaryngology, Head & Neck Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Objective: To evaluate the audiologic outcomes after cochlear implantation (CI) in prelingually deaf children with comorbid disorders.
Study Design: Retrospective study.
Setting: Tertiary care academic center.
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