Prune Belly Syndrome

Alternative Names

  • PBS
  • Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism
  • Eagle-Barrett Syndrome
  • EGBRS
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

100100

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q43

Description

Prune-belly syndrome is characterized by a triad of abnormalities that include, absence of the lower portion of the rectus abdominis muscle and the inferior and midportions of the oblique muscles (causing the skin of the abdomen to wrinkle like a prune), undescended testicles, an expanded bladder and problems in the upper urinary tract, which may include the bladder, ureters, and kidneys. Prognosis may vary from death in utero to a near-normal life expectancy. Prune-belly anomalies are rare and occur mostly in boys. Males suffering from PBS have been noted to be sterile. Several cases have been reported in girls (incomplete prune-belly syndrome) but usually with milder symptoms.

Absence of abdominal muscles with urinary tract abnormality and cryptorchidism is caused by homozygous mutation in the CHRM3 gene. The M3 cholinergic receptor mediates autonomic neurotransmission in the ocular iris pupillary sphincter and the detrusor muscle in humans.

Epidemiology in the Arab World

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Other Reports

Lebanon

Afifi et al, 1972, described a patient affected with prune-belly syndrome born to first-cousin parents.

Oman

Rajab et al, 1996, reported that from 1987 to 1994, a total of 84 Omani infants underwent surgical treatment for posterior urethral valves. 

Sawardekar, 2005, conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in an Omani hospital in Nizwa. Of the 21,988 total births in the hospital, two children were born with Prune Belly Syndrome.

Qatar

Akl and Zayyoud, 1983, reviewed the medical records of 83 children who presented with renal disorders in Qatar during a single year. One patient with chronic renal failure was found to have the Prune Belly syndrome.

[Akl K, Zayyoud M. The spectrum of childhood kidney disease in Qatar. Qatar Med J. 1983; 4(2):95-7.}

Saudi Arabia

Al Harbi, 2003, reported the first known case of a girl with Down syndrome, prune-belly anomalies and an atrioventricular septal defect. She was born to a diabetic mother and died at 29 days of age, most likely due to sepsis.

Tunisia

Boutheina et al, 2000, carried out prenatal diagnoses in 43 patients with lethal urinary tract abnormalities during a five-year-period. Meckel-Gruber syndrome and Prune-Belly syndrome were detected in 4% of the studied cases.

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