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 fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced reciprocal translocation (7;19)(q36.1;q13.43), resulting in functional monosomy for 7q36.1-->qter. Necropsy confirmed that the fetus had isolated sacral agenesis type II. A critical region for autosomal dominant sacral age...

OBJECTIVE To describe the clinical, radiological and genetic findings of a family affected by Currarino syndrome (CS) (agenesis of the sacrum, presacral mass, and anal-rectal anomalies), and to familiarise the radiologist with this condition that, although uncommon, could be suspected by its characteristic images. MATERIAL AND METHODS A study was made of 8 out of 9 family members (the parents...

The author reviews the clinical and pathological features of sacral agenesis, with emphasis on the resulting neurologic deficits and the association in many cases with maternal diabetes mellitus. The demonstrated wide spectrum genetic defects are reviewed in the context of molecular genetic regulation of ontogenesis of bony and neural spinal structures. Differential diagnosis from meningomyeloc...

Urinary incontinence is a common problem in paediatric population and can be caused by many disturbances. To diagnose isolated nocturnal enuresis it is important to exclude physical anomalies that can lead to urinary incontinence. Sacral agenesis is a rare defect of vertebral column which can occur as an isolated defect or coexist with other anomalies. Mild clinical symptoms of the defect may d...

In the past, neurologic deficits found in association with sacral agenesis were thought to be unamenable to surgical therapy. Recent experience and a careful review of autopsy and case reports form the literature have demonstrated that this assumption is unwarranted. Four cases of sacral agenesis are reported with description of the myelographic findings of each case. Surgical confirmation was ...

Sacral agenesis is a heterogeneous group of congenital anomalies in which most cases are sporadic but rare familial forms also occur. Although one gene has been mapped to chromosome 7q36 in families with hemisacrum, associated with anorectal atresia and presacral mass, it is clear that the genetic aetiology of these disorders is complex and other genes remain to be discovered. Some years ago, t...