Short stature, renal and thumb agenesis associated with situs inversus totalis: a case report.

Autor: Ozkaya AK; Karadeniz Technical University, Faculty of Medicine, Department of Pediatrics, Trabzon, Turkey. kaganozkaya@yahoo.com, Okten A
Jazyk: angličtina
Zdroj: Genetic counseling (Geneva, Switzerland) [Genet Couns] 2012; Vol. 23 (3), pp. 423-9.
Abstrakt: Situs inversus is a laterality disorder of the internal organs, which create a mirror image of the normal morphology, and are associated with cardiovascular, abdominal, and pulmonary malformations. We report a case with constitutional growth delay, thumb and renal agenesis, dysmorphic facial features, carpal tunnel syndrome and situs inversus totalis.
Databáze: MEDLINE