McKusick-Kaufman syndrome

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

Abdominal mass

An abnormal enlargement or swelling in the abdomen.


Total: 1

                      


(per page)
PMID (PMCID)
20091696
FEMALE Infant, Newborn
McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder.
Slavin TP, McCandless SE, Lazebnik N.
J Clin Ultrasound. 2010;38(3):151-5.
We report the case of a fetus with a large cystic abdominal mass and discuss how the differential diagnosis was narrowed to include McKusick-Kaufman syndrome (MKS).