Article (Published version) (247 Kb) - Limited access to UNIGE
Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?
|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/ultrasonography — Adult — Child, Preschool — Female — Gastroschisis/genetics/pathology/ultrasonography — Genetic Predisposition to Disease — Hernia, Umbilical/genetics/surgery — Humans — Hypospadias/genetics — Male — Pedigree — Vulva/abnormalities|
|Research group||Recherche clinique en chirurgie pédiatrique (886)|
|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. doi: 10.1111/j.1741-4520.2010.00291.x https://archive-ouverte.unige.ch/unige:25066|