CASE A female infant, born by cesarean delivery (dilation dystocia), was referred to our service at age of 24 hours with a history of “imperforate anus”. Physical examination revealed duplicity of the vulvar introit (urine output by the right orifice and feces by the left). She was submitted to the following imaging exams: (1) echodopplercardiogram – interatrial and interventricular communicati...

Complete duplication of genitourinary system, colon and vertebral column is a very rare and complex congenital condition termed as "caudal duplication syndrome" with variable presentations. This term is often quoted as a type of incomplete separation of mono-ovular twins or conjoined twinning. It is associated with other congenital malformations of the genitourinary, gastrointestinal and other ...

Sacral agenesis belongs to spectrum of aplastic vertebral malformations ranging from agenesis of coccyx to lower thoracic vertebrae and the term sacral agenesis has been used synonymously with caudal regression syndrome. Higher the defect, severe is the neurological deficit. Mangeau and Leclaire described a patient with ninth thoracic vertebra as the lowest segment(l). Sacral agenesis is more c...

A range of anorectal malformations with sacral bony abnormalities was found in members from three generations of two kindreds. The anorectal anomaly was low in all but one of the patients. Partial sacral agenesis was the main bony defect in one family, and meningomyelocele and spina bifida occulta were noted in the second. The inheritance pattern in these kinships is autosomal dominant. This ma...

Sirenomelia, the Mermaid Syndrome is a rare and lethal congenital anomaly with an incidence of one in 60,000 to 70,000 pregnancies. Sirenomelia is characterized by complete fusion of the lower limbs, commonly associated with renal agenesis, absent external genitalia and other gastrointestinal defects. Another pathognomonic finding is the presence of single umbilical, persistent vitelline artery...

Caudal dysplasia sequence (CDS) comprises developmental anomalies of the caudal vertebrae, neural tube, urogenital and digestive organs, and hind limbs, the precursors of all of which are derived from the caudal eminence. Although the syndrome is well recognized, the etiology and pathogenetic mechanisms are poorly understood. We report syringomyelia in association with the CDS, which has not be...