Hand-food-genital syndrome (HFGS) is a rare genetic condition. This report describes the cases of two patients, aged 33 and 15, presenting related somatic abnormalities. HFGS stems from an autosomal anomaly linked to the HOXA 13 gene. Therapeutic procedures are discussed in order to identify the best treatment approach to the patients, as well as possible conditioning genetic anomalies.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5982563 | PMC |
http://dx.doi.org/10.5935/1518-0557.20180025 | DOI Listing |
Mol Med Rep
March 2023
Marseille Medical Genetics, U1251, National Institute of Health and Medical Research (INSERM), School of Medicine, Aix Marseille University, 13005 Marseille, France.
The genes cluster plays a key role in embryologic development. Mutations in genes have been linked to different human phenotypes, including developmental delay, limb anomalies, and urogenital malformations. The present study reported a clinical and genetic investigation of a female patient with polymalformative syndrome including left arm agenesis, bicornuate uterus and bicuspid aortic valve.
View Article and Find Full Text PDFEur J Med Genet
March 2023
Pediatric Intensive Care Unit, Hebei Children's Hospital, Shijiazhuang, China. Electronic address:
Background: Hand-Foot-Genital Syndrome (HFGS) is an autosomal dominant disorder characterized by a broad phenotypic spectrum. Variants in HOXA13 gene were associated with HFGS. To date, only twenty families with HFGS have been reported.
View Article and Find Full Text PDFAnn Med Surg (Lond)
February 2021
Pediatric Department, Aleppo University Hospital, Aleppo, Syria.
Hand-Foot-Genital Syndrome (HFGS) is a dominantly inherited condition and one of the rarest cases encountered in clinical practice. It might be presented with a wide variety of limb malformations and urogenital defects manifestations. In this report, a unique and novel case of HFGS accompanied with Embryonal Rhabdomyosarcoma of the urinary bladder is described in a two-year-old male.
View Article and Find Full Text PDFDermatol Ther
March 2021
Department of Dermatology, KPC Medical College and Hospital, Kolkata, India.
J Pediatr
July 2020
Division of Medical Genetics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!