The patient claimed "normal" voiding until the age of 16 years, although he never experienced a truly "normal" urination. Because of renal colic at that age, he had an ultrasound scan in which bilateral moderate hydronephrosis and thickening of the bladder walls were observed. However, no further investigation or treatment of these symptoms was performed. Five years ago, the patient was urgently admitted because of urinary retention. Severe bilateral ureterohydronephrosis appeared on the ultrasound scan. A Foley catheter was inserted, and he then drained urine through the catheter.

Upon admission, the patient brought results of a recent urodynamic investigation that included results from urethral profilometry and voiding cystometry. Voiding cystometry during filling revealed normal sensation, capacity, and compliance of the bladder and the absence of detrusor overactivity. Although he had a strong voiding sensation with 500 mL, there was no increase in detrusor pressure suggesting urination, and the patient was unable to void and thus undergo a uroflowmetry test. The conclusion of the urodynamic investigation was a hypoactive bladder along with urethral obstruction.

The patient had the typical appearance and bone radiographic findings of Gorlin-Cohen syndrome. Characteristic features were present, including sclerotic supraorbital ridges, skull hyperostosis, micrognathia with prominent mandibular antegonial notch, scoliosis, and elongation of the metacarpals and phalanges.

Laboratory investigations were normal, and an ultrasound scan revealed some degree of residual ureterohydronephrosis and multiple stones in the bladder. Three-dimensional computed tomography of a retrograde cystourethrogram revealed dilatation of the prostatic urethra, a hypertrophic verumontanum, bladder neck stenosis, bladder distension with wall thickening, and vesicoureteral reflux with moderate ureterohydronephrosis (Figure ​(Figure1).1). Finally, cystourethroscopy revealed a normal penile and membranous urethra, but a dilated prostatic urethra with longitudinal mucosal folds between a hypertrophic verumontanum and bladder neck, which probably represented the least common type (type 2) of urethral valves and severe bladder neck contracture (Figure ​(Figure22).

After patient consent was obtained, acknowledging that he was highly likely to experience postoperative retrograde ejaculation, he underwent urethral valve excision and bladder neck incision. Because of the difficulty of removing the bladder stones endoscopically, he also underwent an open cystolithotomy during the same operation. A total of 28 stones were removed from his bladder. The catheter was removed on the fifth postoperative day, and the patient was able to void and empty his bladder without residual urine. One year later, the patient continues to report normal micturition. The urodynamic investigation revealed normal pressure flow study results with Q_max of 19 mL/s and P_det in peak flow of 33 cmH₂O. The patient voided 205 mL without a residual volume (Figure ​(Figure3).3). Ultrasound examination of the patient revealed mild residual hydronephrosis without bladder stones.

A proportion of individuals have missense mutations or small deletions in an X-linked gene, FLNA. The possibility of X-linked inheritance was suggested because affected individuals show some variation in clinical severity of the disease, and manifestations in females are normally milder than in males [5,6]. Despite this finding, the observation that there is partial expression in female carriers suggests that locus heterogeneity may exist for this disorder [7].

In addition to the obvious bony changes, patients have extraskeletal manifestations, which include upper airway malformations and recurrent respiratory symptoms, conductive hearing loss, underdeveloped musculature, mental retardation, cardiac defects, and genitourinary malformations [7].

Our case is typical of this syndrome with the exception of the urological manifestations, which are only briefly described in the literature. To date, of the few dozen male cases that have been reported worldwide, only approximately 32% [7] have had some form of congenital obstructive uropathy [2]. Although the most common urologic complication of the syndrome is urethral obstruction [7], there is not a meticulous description of the symptoms or their treatment.

However, on reviewing the literature, an obstructive uropathy has been previously reported. A 10-year-old male patient, briefly described by Sauvegrain et al., presented with bilateral dilatation of the renal pelvises and ureters. Although the authors did not comment on the urethra, this anomaly suggests the presence of a lower urinary tract obstructive lesion [4]. One patient, reported by Kassner et al., died from septic pyelonephritis due to hydronephrosis [8]. The child described by Kanemura et al. had stenosis of the external urethral meatus, stricture of the membranous urethra, stenosis of the right ureterovesical junction, and bilateral hydronephrosis with hydroureters [9]. Fitztimmons et al. also reported a male patient suffering from frontometaphyseal dysplasia. From the time of delivery, the patient suffered from posterior urethral valves and bilateral hydroureters with hydronephrosis. The valves were successfully treated by diathermy [2]. An 11-year-old boy with frontometaphyseal dysplasia was described by Lee et al. as having bilaterally urinary tract malformation and chronic urinary tract infections. To improve his facial appearance, this patient's prominent supraorbital ridges were contoured by ostectomy. A urologic operation was performed simultaneously [10]. Morava et al. described another male patient diagnosed with frontometaphyseal dysplasia who had recurrent hematuria. Cystourogram results suggested the presence of a mild constriction at the proximal urethra, which required treatment with antibiotics [11].

This study indicates that obstructive lesions of the ureters and urethra commonly accompany frontometaphyseal dysplasia and should be specifically sought and excluded in individuals for whom the diagnosis is being considered. Our case represents a guide to how patients suffering from this rare syndrome may be approached to assess and correct functional and anatomical anomalies.