A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?
We report a 15-year-old girl with features of the MURCS (Mullerian abnormalities, renal agenesis/ectopy and cervicothoracic somite dysplasia) association and birth defects not typically associated with MURCS. In addition to seizures and intellectual disability, she has cortical brain heterotopia, bilateral subclinical cataracts, submucous cleft palate and patent ductus arteriosus. We propose that this patient represents a more severe form of MURCS, or 'MURCS-plus', which may represent a defect of or insult to mesodermal morphogenesis.
Tan
Tiong Yang
TY
Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. tiong.tan@ghsv.org.au
Whitelaw
Charlotte
C
Savarirayan
Ravi
R
D000293:Adolescent; D002386:Cataract / Q000150:complications*; D002574:Cervical Vertebrae / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital / Q000150:complications; D009095:Mullerian Ducts / Q000002:abnormalities*; D013123:Spinal Fusion