UNIGE document Scientific Article - Case report
previous document  unige:25066  next document
add to browser collection
Title

Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?

Authors
Extermann, Philipe
Published in Congenital Anomalies. 2011, vol. 51, no. 2, p. 96-9
Abstract Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible transmission of non-syndromic abdominal wall defects. It could be hypothesized that similar developmental defects may result in anomalies like hypospadias in males or developmental anomalies of the labia minora or labia majora in females.
Keywords Abdominal Wall/abnormalities/ultrasonographyAdultChild, PreschoolFemaleGastroschisis/genetics/pathology/ultrasonographyGenetic Predisposition to DiseaseHernia, Umbilical/genetics/surgeryHumansHypospadias/geneticsMalePedigreeVulva/abnormalities
Identifiers
PMID: 20727000
Full text
Article (Published version) (247 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research group Recherche clinique en chirurgie pédiatrique (886)
Citation
(ISO format)
WONKAM, Ambroise et al. Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?. In: Congenital Anomalies, 2011, vol. 51, n° 2, p. 96-9. https://archive-ouverte.unige.ch/unige:25066

214 hits

0 download

Update

Deposited on : 2013-01-07

Export document
Format :
Citation style :