Aplasia cutis congenita (ACC) is a rare disorder, which is defined by the localized, or less commonly widespread absence of skin involving the epidermis, dermis and subcutaneous tissue with an incidence of 1/10.000 newborns. The underlying bone and dura mater can be also affected, and muscle and bone involvement occur in approximately 20 to 30% of the cases. Aplasia cutis congenita most often o...

Herein, we describe a perineum-based pediculated scrotal flap procedure for urethral reconstruction. A scrotal tubular flap was used as a substitute to correct a proximal penile urethral stricture in case 1. In case 2, a scrotal island patch was performed to treat an iatrogenic penile urethral injury. In both cases, the urethral catheter was removed on postoperative day 14 with simultaneous nor...

An anterior urethral valve is uncommon compared to a posterior urethral valve as a cause of lower obstructive uropathy. Furthermore, an anterior urethral valve in the fossa navicularis is extremely rare. We describe the case in a 6-year-old boy who presented with a split urinary stream. Endoscopy revealed an anterior urethral valve in the fossa navicularis, and we successfully incised the valve...

INTRODUCTION Aplasia of the posterior arches of the atlas is an uncommon condition caused by a defect in their closure. It is usually associated with different syndromes. CASE REPORT We present 2 asymptomatic patients with aplasia of C1 posterior bodies. CONCLUSIONS Further studies are required on these lesions in order to take possible protection measures against trauma, and the selection ...

The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the d...

BACKGROUND Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate. CASE CHARACTERISTICS 13-year-old Indian girl presented with deafness since infancy and progressive wrist wide...

Red cell aplasia in children is a condition characterised by failure of erythropoiesis, with normal production of white blood cells and platelets. The disorder is either acquired or constitutional (congenital or inherited). The constitutional disorder is usually permanent, while the acquired variety is often transient, and thereby differs from adult pure red cell aplasia. As the treatment and p...

A 32 week, small for dates baby with aplasia cutis congenita had an unbalanced translocation, being monosomic for distal 12q and trisomic for distal 1q. As far as is known, the association between extensive skin defects and a chromosomal abnormality has not been reported before. Keratin genes have been located in a different area of 12q, but this case may indicate other candidate areas to explo...

Introduction: Urethral erosion accounts for one of the most dreaded complications after implantations of artificial sphincters. We report two cases involving urethral diverticula, as a result of prosthetic removal caused by urethral erosion. Case Report: Case A: BG, patient aged 72, affected by urinary incontinence post-radical prostatectomy. In 1999 the patient had an implant of artificial sph...

Anomaly in the development of body stem is a serious congenital developmental defect and characterized by significant anterior abdominal wall with pronounced changes rachis hypoplasia or aplasia umbilical cord. The paper describes cases anomalies fetuses, diagnosis which was carried out during early prenatal ultrasound at stage postmortem autopsy aborted material.