Congenital lung agenesis is an extremely rare condition with an estimated prevalence of 34 in 1,000,000 live births. It is often associated with other congenital malformations of the skeletal, cardiovascular, urogenital, and gastrointestinal systems. We discuss the case of a 5-month-old who presented with increasing stridor over 1 month. Imaging revealed right lung agenesis, complete dextromalp...

purpose: to assess the frequency and type of associated malformations and chromosomal anomalies among patients with anophthalmia, microphthalmia, and coloboma in sistan and baluchestan province. methods: patients with a clinical diagnosis of anophthalmia, microphthalmia, or coloboma were examined to find any anomaly in craniofacial, muscle-skeletal, cardiac, neurologic and urogenital systems. a...

Deepening and generalization of existing knowledge about rare diseases congenital anomalies are becoming relevant in modern medical practice. Understanding the features prenatal morphogenesis spine spinal cord, as well postnatal changes cartilaginous spine, is necessary to interpret severity pathologies predict their complications. The purpose study was analyze summarize information sources sci...

BACKGROUND/PURPOSE Rectovaginal fistula is a term that continues to be used frequently to describe girls with anorectal malformations. This study attempts to evaluate the true frequency of this anomaly and the consequences of its misdiagnosis. METHODS A retrospective review of all girls with anorectal malformations treated by the senior author from 1980 through September 2000 was performed, a...

Background/Purpose: Anorectal malformations are one of the most common congenital defects. This study was undertaken to study the hospital incidence of anorectal malformations (ARM), frequency of various types of defects, their sex distribution and the spectrum of anomalies associated with ARM. The effect of presence of an associated defect on mortality and morbidity was also studied. Materials...

OBJECTIVE Klippel-Trenaunay-Weber syndrome (KTWS) is a congenital condition characterized by vascular malformations of the capillary, venous and lymphatic systems associated to soft tissue and bone hypertrophy in the affected areas. This syndrome may involve bladder, kidney, urethra, ureter and genitals. We report the treatment of 7 KTWS patients with urogenital involvement. MATERIALS AND MET...