The phenotypic and pathological features of prune-belly syndrome

Abstract

Objective: Prune-belly syndrome is a rare congenital disorder characterized by musculature deficiency in the abdominal wall, lower urinary tract obstruction, other urinary tract anomalies, and bilateral cryptorchidism. The syndrome is commonly associated with pulmonary, skeletal, cardiac, and gastrointestinal defects. Over 95% of patients are male. Urinary tract disease is the major prognostic factor with the complications of pulmonary hypoplasia and end stage renal disease. The aim of this study was to determine phenotypic and pathologicalfeatures of fetuses with this syndrome. Material and Method: Six fetuses with prune-belly syndrome were evaluated by postmortem pathological investigation. Characteristic features of the fetuses with this syndrome as well as additional anomalies were evaluated. Results: Five fetuses were male while one was female. Gestational age ranged from 15 to 22 weeks. A urethral pathology that prevented urinary outflow from the bladder was present in all cases. Marked bladder distension with atrophy of the bladder smooth muscle and abdominal distension with muscular atrophy were also seen in all. Crypto-orchidism, Potter face, pes equinovarus, pulmonary hypoplasia and obstructive renal dysplasia were among the additional noteworthy anomalies. Conclusion: The pathogenesis of prune-belly syndrome is controversial. More studies are required on the inheritance, etiology and pathogenesis of the prune belly syndrome. Factors affecting the bilaminar and trilaminar germ layer during early 2-3. embryonic week may be considered to explain the pathogenesis of the anomalies seen with this syndrome.