MURCS syndrome is a more severe form of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal agenesis/ectopia (R), and cervical somite dysplasia (CS). A common presentation is primary amenorrhea in adolescent females. An anesthetist must consider the benefits and limitations of both regional and general anesthesia for these patients based on site of surgery and severity of malformations. We report successful anesthetic management of a 21-year-old female with MURCS syndrome scheduled for a creation of neovagina under spinal anesthesia using ultrasound guidance.
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http://dx.doi.org/10.4103/aer.aer_137_21 | DOI Listing |
Cureus
August 2024
Pediatrics, Dr. D. Y. Patil Medical College Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is described in females with a 46, XX karyotype and normal development of secondary sexual characteristics. The primary sexual characteristics are depicted by the congenital aplasia of the uterus and the upper two-thirds of the vagina. Based on the extent of malformations and association of extra-genital anomalies, it is categorized into type I and type II MRKH.
View Article and Find Full Text PDFActa Med Philipp
May 2024
Department of Anesthesiology, Philippine General Hospital, University of the Philippines Manila.
Klippel-Feil Syndrome (KFS) continues to pose significant challenges for anesthesiologists. Beyond the expected complexities of managing difficult airways in these patients, they often present with systemic anomalies that can elevate the risk of morbidity during surgeries conducted under anesthesia. Furthermore, laparoscopic procedures bring about additional physiologic changes that must be taken into consideration when planning the anesthetic care for these individuals.
View Article and Find Full Text PDFJ Pediatr
September 2024
Department of Neurosurgery, Pennsylvania State College of Medicine, Hershey, PA.
Objective: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies.
Study Design: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists.
Results: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement.
Diagnostics (Basel)
July 2022
National Medical Research Center for Traumatology and Ortopedics n.a. G.A. Ilizarov, 640014 Kurgan, Russia.
Purpose: Torticollis is not of uncommon occurrence in orthopaedic departments. Various theories and studies concerning the pathogenesis of the deformity have been suggested. We aimed to highlight and discuss the underlying cervical and spine malformation complex in correlation with torticollis via radiographic and tomographic analysis and its connection with a specific syndromic entity.
View Article and Find Full Text PDFAm J Med Genet A
September 2022
Department of Pediatrics, Division of Medical Genetics, Helen DeVos Children's Hospital, Spectrum Health, Grand Rapids, Michigan, USA.
Pleiotropy is defined as the phenomenon of a single gene locus influencing two or more distinct phenotypic traits. However, nicotinamide adenine dinucleotide (NAD+) deficiency through diet alone can cause multiple or single malformations in mice. Additionally, humans with decreased NAD+ production due to changes in pathway genes display similar malformations.
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