BACKGROUND: Large perineal hemangiomas can be associated with congenital anomalies, including anorectal, urinary tract, spine, and external genitalia malformations. OBSERVATIONS: We describe 2 infants with large sacral and perineal hemangiomas, with severe malformation of the external genitalia with ambiguous genitalia in one case and urinary tract malformations and imperforate anus in the other case. These cases are discussed, along with 9 previously reported cases with similar findings. CONCLUSIONS: Large perineal hemangiomas may constitute a distinctive group of associated anorectal, neurologic, renal or urinary tract, and genital defects. We propose the acronym PELVIS syndrome to emphasize the characteristic findings of this syndrome: perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag.
BACKGROUND: Large perineal hemangiomas can be associated with congenital anomalies, including anorectal, urinary tract, spine, and external genitalia malformations. OBSERVATIONS: We describe 2 infants with large sacral and perineal hemangiomas, with severe malformation of the external genitalia with ambiguous genitalia in one case and urinary tract malformations and imperforate anus in the other case. These cases are discussed, along with 9 previously reported cases with similar findings. CONCLUSIONS: Large perineal hemangiomas may constitute a distinctive group of associated anorectal, neurologic, renal or urinary tract, and genital defects. We propose the acronym PELVIS syndrome to emphasize the characteristic findings of this syndrome: perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag.
Authors: Wendy E Schumacher; Beth A Drolet; Mohit Maheshwari; Kimberly A Horii; Amy J Nopper; Brandon D Newell; Denise W Metry; Maria C Garzon; Kimberly D Morel; Sarah L Chamlin; Anthony J Mancini; Ilona J Frieden; Craig M Johnson Journal: Pediatr Radiol Date: 2011-12-04
Authors: T Feygin; A E Goldman-Yassen; D J Licht; J E Schmitt; A Mian; A Vossough; L Castelo-Soccio; J R Treat; A Bhatia; A N Pollock Journal: AJNR Am J Neuroradiol Date: 2021-07-08 Impact factor: 4.966