TY - JOUR
T1 - Prune belly syndrome associated with cloacal anomaly, patent urachal remnant, and omphalocele in a female infant
AU - Giuliani, Stefano
AU - Vendryes, Christopher
AU - Malhotra, Ajay
AU - Shaul, Donald B.
AU - Anselmo, Dean M.
PY - 2010/11
Y1 - 2010/11
N2 - Prune belly syndrome (PBS), megacystis-microcolon-intestinal hypoperistalsis (MMIH), and omphalocele-exstrophy of the bladder-imperforate anus-spine abnormalities complex (OEIS) are rare congenital malformations of the newborn that lead to incomplete formation of the gastrointestinal and genitourinary tract systems. To date, incomplete mesodermal development is identified as the cause for all these complex genetic syndromes even if the etiology is still unknown. We present an original case sharing characteristics common to PBS, MMIH, and OEIS complex, without a clear inclination toward any particular one. This case hints toward a common pathway in the creation of the 3 syndromes. We hypothesize that they are a spectrum of malformations based on the time frame when the mesoderm fails to create a normal interaction between infraumbilical mesoderm, urorectal septum, lumbosacral somites in the formation of the abdominal wall and the genitourinary and lower gastrointestinal tracts.
AB - Prune belly syndrome (PBS), megacystis-microcolon-intestinal hypoperistalsis (MMIH), and omphalocele-exstrophy of the bladder-imperforate anus-spine abnormalities complex (OEIS) are rare congenital malformations of the newborn that lead to incomplete formation of the gastrointestinal and genitourinary tract systems. To date, incomplete mesodermal development is identified as the cause for all these complex genetic syndromes even if the etiology is still unknown. We present an original case sharing characteristics common to PBS, MMIH, and OEIS complex, without a clear inclination toward any particular one. This case hints toward a common pathway in the creation of the 3 syndromes. We hypothesize that they are a spectrum of malformations based on the time frame when the mesoderm fails to create a normal interaction between infraumbilical mesoderm, urorectal septum, lumbosacral somites in the formation of the abdominal wall and the genitourinary and lower gastrointestinal tracts.
KW - Cloaca
KW - Female
KW - Omphalocele
KW - Prune belly
UR - http://www.scopus.com/inward/record.url?scp=78049481947&partnerID=8YFLogxK
U2 - 10.1016/j.jpedsurg.2010.07.054
DO - 10.1016/j.jpedsurg.2010.07.054
M3 - Article
C2 - 21034928
AN - SCOPUS:78049481947
SN - 0022-3468
VL - 45
SP - e39-e42
JO - Journal of Pediatric Surgery
JF - Journal of Pediatric Surgery
IS - 11
ER -