Copy number variations in a population with prune belly syndrome

Prune Belly Syndrome

Prune belly syndrome is a rare congenital disorder of the urinary system, characterized by a triad of abnormalities. The aetiology is not known. Many infants are either stillborn or die within the first few weeks of life from severe lung or kidney problems, or a combination of congenital anomalies.

Prune Belly Syndrome.

Prune Belly Syndrome with Situs Inversus Abdominus

A full term male baby born to a 23-year-old primigravida did not develop spontaneous respiration after birth. His heart rate was <40/min and required bag and tube ventilation; and shifted to NICU for further management. Antenatal ultrasound at 36 weeks showed single live fetus with grossly distended bladder with dilated proximal urethra, bilateral hydroureters causing significant intra-abdomina...

VACTERL association with Prune-Belly syndrome.

We report a term, small for gestational age neonate having full spectrum of VACTERL association. In addition, the neonate also had triad of signs and symptoms associated with prune belly syndrome. The concurrence of these two syndromes could lie in their common etiology of defect in mesodermal differentiation. Such a combination is extremely rare and is generally incompatible with life.

Concurrence of prune belly syndrome with meningomyelocele

Prune Belly Syndrome (PBS) comprises a triad of abdominal wall deficiency, urogenital abnormalities and cryptorchidism. Neurologic abnormalities are unusual in prune belly syndrome. Here, we report a rare association of meningomyelocele with prune belly syndrome and provide an embryologic perspective to this concurrence.