Prune belly syndrome

Definition:

Prune belly syndrome (PBS) is a rare congenital anomaly characterized by deficient or absent abdominal wall musculature, hypotonia, ectasia of the urinary system, and bilateral intra-abdominal testes. A homozygous loss-of-function mutation of muscarinic acetylcholine receptor M3 (CHRM3) has been described from patients with a PBS-like syndrome. CHRM3 encodes the major receptor mediating urinary bladder contraction upon micturition.

References:

[1]. D I Williams, et al. The prune belly syndrome. J Urol. 1967 Aug;98(2):244-51. [Content Brief]

[2]. O H Ekwunife, et al. Prune belly syndrome: early management outcome of nine consecutive cases. Niger J Clin Pract. 2014 Jul-Aug;17(4):425-30. [Content Brief]

[3]. S Hassett, et al. Prune belly syndrome. Pediatr Surg Int. 2012 Mar;28(3):219-28. [Content Brief]

[4]. Stefanie Weber, et al. Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am J Hum Genet. 2011 Nov 11;89(5):668-74. [Content Brief]

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