Currarino syndrome is a hereditary pathology that is characterized by sacrococcygeal bone defect, presacral mass, and anorectal malformation. Sacrococcygeal bone defect is almost always a part of the syndrome. The complete form of this entity displays all three abnormalities and is very uncommon. In this report, we present the magnetic resonance imaging findings of a case with complete form of Currarino syndrome recognized in adulthood.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374199 | PMC |
http://dx.doi.org/10.4103/2156-7514.152339 | DOI Listing |
J Cancer Res Ther
April 2024
Department of Pediatric Surgery, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
Currarino syndrome (CS) is a rare congenital syndrome characterized by a triad of anorectal malformation, sacral deformity, and presacral mass. In about 50% of cases, it is caused by HLXB9 gene mutation in chromosome 7q36. A 13-month-male child presented with presacral discharging sinus with a history of surgery for anorectal malformation and perineal fistula at the time of birth.
View Article and Find Full Text PDFCancers (Basel)
June 2024
Department of Pediatric Hematology and Oncology, University Hospital Bonn, 53127 Bonn, Germany.
GCTs are developmental tumors and are likely to reflect ontogenetic and teratogenetic determinants. The objective of this study was to identify syndromes with or without congenital anomalies and non-syndromic defects as potential risk factors. Patients with extracranial GCTs (eGCTs) registered in MAKEI 96/MAHO 98 between 1996 and 2017 were included.
View Article and Find Full Text PDFPediatr Surg Int
May 2024
Department of General Surgery, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No.56 Nanlishi st, Xicheng District, Beijing, 100045, China.
Purpose: To describe the long-term bowel function of anorectal malformation (ARM) patients and explore the potential influence factors.
Methods: ARM patients with follow-up data > 10 years were included. Cases of cloaca, Currarino syndrome, and VACTERL syndrome were excluded.
J Pediatr Surg
August 2024
Department of Surgery, UC Davis Children's Hospital, University of California Davis, Sacramento, CA, USA; Department of Surgery, Shriners Hospital for Children-Northern California, Sacramento, CA, USA. Electronic address:
Purpose: Congenital anorectal stenosis is managed by dilations or operative repair. Recent studies now propose use of dilations as the primary treatment modality to potentially defer or eliminate the need for surgical repair. We aim to characterize the management and outcomes of these patients via a multi-institutional review using the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry.
View Article and Find Full Text PDFMol Syndromol
March 2024
Department of Medical Genetics, National Institute of Health in Rabat, Rabat, Morocco.
Introduction: Currarino syndrome is a rare syndrome with multiple congenital anomalies including sacral agenesis, anorectal malformation, and presence of a presacral mass. Currarino syndrome is considered to be an autosomal dominant inherited disorder, with low penetrance and variable expressivity, but sporadic cases have also been reported. Mutations in gene, mapped to 7q36, are the main causes of this syndrome.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!