[Mitochondrial dysfunction in human pathology].
Explore the source record for details and available documents.
Brain Diseases↗
Biomedical subjects
C Danan
Publications and source records attributed to C Danan.
[Spontaneous perforation of the bile ducts].
Spontaneous perforation of the extra-hepatic bile ducts in infancy is rare and of unknown etiology. Its finding at laparotomy in a 2 month-old premature with artificial ventilation allows to underline that the diagnosis may be difficult and may necessitate ultrasonography and even hepatobiliary scintigraphy.
Bile Duct Diseases↗
Phenotype-karyotype correlations in dup(18q): report of a case and review.
We report on a case of dup(18q) due to de novo translocation 46,XX,-21,t(18;21)(18qter----cen----21qter). The patient had many characteristic signs of full trisomy 18 except for internal organ malformations and early death. We review the phenotype-karyotype correlations between full trisomy 18 and dup(18q) and discuss the possibility of the existence of "critical zone(s)" at the proximal or/and distal region of 18q responsible for most signs of trisomy 18, such as congenital heart defect and early death.
Abnormalities, Multiple↗