title: Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report.
abstract: BACKGROUND
  Frontometaphyseal dysplasia, or Gorlin-Cohen syndrome, is an X-linked disorder primarily characterized by skeletal dysplasia, such as hyperostosis of the skull and abnormalities of tubular bone modeling. Some patients develop extraskeletal manifestations, such as urinary tract anomalies.
  
  
  METHODS
  A 26-year-old male patient was diagnosed with frontometaphyseal dysplasia and suffered from chronic urine retention. Although the patient was primarily diagnosed with a neurogenic bladder, our work-up revealed posterior urethral valves, bladder neck stenosis, and multiple bladder stones. The patient was treated by transurethral resection of the urethral valves and bladder neck with simultaneous open cystolithotomy to remove the bladder calculi. After removal of the catheter, the patient voided normally and had no post-void residual urine. At the 1-year follow-up, he was still voiding normally; his urodynamic investigation was also normal.
  
  
  CONCLUSIONS
  In the recent literature, there is scarce information on the diagnosis, treatment, and follow-up of patients with malformations of the urinary tract as a result of Gorlin-Cohen syndrome. The case presented here could guide urological approaches to patients suffering from this rare condition.
authors.affiliation: Urologic Department of Aristotle University of Thessaloniki, G. Gennimatas General Hospital, 41 Ethnikis Aminis Str., Thessaloniki, Greece. vakalj@otenet.gr
authors.forename: Ioannis
authors.initials: I
authors.lastname: Vakalopoulos
authors.forename: Spyridon
authors.initials: S
authors.lastname: Kampantais
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Dimopoulos
authors.forename: Christos
authors.initials: C
authors.lastname: Papastavros
authors.forename: Vasileios
authors.initials: V
authors.lastname: Katsikas
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000601:surgery*; D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications / Q000175:diagnosis / Q000601:surgery*; D006801:Humans; D008297:Male; D035781:Siblings; D013577:Syndrome; D016896:Treatment Outcome; D014524:Urethral Obstruction / Q000150:complications / Q000175:diagnosis / Q000601:surgery*; D016055:Urinary Retention / Q000150:complications / Q000175:diagnosis / Q000601:surgery