Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature
Autor: | Dae Gyu Kwon, Tack Lee, Sun Kim, Yeong Seok Lee, Dong Hyun Kim, Ji Eun Lee, Seun Deuk Hwang, Aram Yang |
---|---|
Jazyk: | angličtina |
Rok vydání: | 2019 |
Předmět: |
Pediatrics
medicine.medical_specialty Endocrinology Diabetes and Metabolism Urinary system 030209 endocrinology & metabolism Case Report Mayer Rokitansky-Küster-Hauser anomaly Short stature MURCS association 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Mullerian aplasia medicine Child business.industry lcsh:RJ1-570 lcsh:Pediatrics Aplasia medicine.disease Hypoplasia medicine.anatomical_structure Dysplasia Agenesis Pediatrics Perinatology and Child Health medicine.symptom business Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia association Duct (anatomy) |
Zdroj: | Annals of Pediatric Endocrinology & Metabolism, Vol 24, Iss 3, Pp 207-211 (2019) Annals of Pediatric Endocrinology & Metabolism |
ISSN: | 2287-1292 2287-1012 |
Popis: | Mullerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia (MURCS) association is a unique development disorder with four common types of malformations that include uterine aplasia or hypoplasia, renal ectopy or agenesis, vertebral anomalies, and short stature. The majority of MURCS patients are diagnosed with primary amenorrhea from late-adolescence. However, a few cases with MURCS association are not well diagnosed during childhood and long-term outcomes are not well reported. We report a case of an 8-year-old girl with MURCS association who presented with recurrent urinary tract infections and multiple congenital malformations, and who was followed for 10 years until adulthood. MURCS association should be considered as one of the differential diagnoses when evaluating prepubertal females with vertebral and renal malformations. |
Databáze: | OpenAIRE |
Externí odkaz: |