PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 16847205

PELVIS Syndrome.

Céline Girard·Michèle Bigorre·Bernard Guillot·Didier Bessis
View original source ↗Export metadata ↓

Abstract

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.

Explore related subjects

Abnormalities, MultipleAnus, ImperforateDiagnosis, DifferentialFemaleGenitalia, FemaleGenitalia, MaleHemangiomaHumansInfantMalePerineumSacrococcygeal RegionSkin NeoplasmsSyndromeUterusCase ReportsJournal ArticleReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Céline Girard, Michèle Bigorre, Bernard Guillot, Didier Bessis. 2006. PELVIS Syndrome.. https://doi.org/10.1001/archderm.142.7.884

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2007

De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies.

Reports of small proximal 1q duplications are rare. We report a 1 month-old female who was referred to clinic because she was believed to have features suggestive of Turner syndrome. The patient's dysmorphic features included a prominent nose, low-set and crumpled ears, slightly high palate, short neck, high-pitched cry, mild micrognathia, hypoplastic labia majora, and somewhat deep palmar creases. Traditional G-band chromosome studies of the patient were interpreted as 46,XX,dup(1)(q12q21). To further evaluate the extent of the chromosome 1 duplication, Spectral Karyotyping and a series of six fluorescence in situ hybridization (FISH) probes were utilized. The FISH probes refined the extent of the duplication to involve the region 1(q12q22) indicating the duplicated segment was larger than interpreted by the G-banding studies. This first case of non-mosaic proximal duplication of 1q to be characterized by multiple locus specific FISH probes should allow a more refined delineation of the phenotypic findings and clinical significance associated with this rare chromosomal duplication.

Abnormalities, Multiple↗
PubMed2007

Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review.

We report on a 26-year-old male with profound psychomotor retardation and a pattern of dysmorphic features and malformations characteristic for duplication of the short arm of chromosome 16. He has an elongated face, sparse hair, upslanting palpebral fissures, anteverted nostrils, hypoplastic thumbs on both hands, and dislocation of several joints. His chromosome aberration was diagnosed at birth and was due to an unbalanced segregation of a maternal translocation t(2;16)(q36;p11). At 26 years of age he is, to the best of our knowledge, the oldest patient with duplication of 16p reported to date. We present a long-term observation of growth, psychomotor development, dysmorphic features and evolution of his skeletal and joint defects as well as a review of the literature.

Abnormalities, Multiple↗