Article
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.
Journal of medical genetics - 1 May 1993
Turco A E, Padovani E M, Chiaffoni G P, Peissel B, Rossetti S, Marcolongo A, Gammaro L, Maschio G, Pignatti P F
Abstract excerpt
We report a case of an unusual prenatal presentation of polycystic kidneys associated with multiple skeletal limb defects, including polydactyly, syndactyly, bilateral agenesis of the tibia, and club foot. The ultrasonographic picture was consistent with a diagnosis of polycystic kidney disease,...
Topics
- Adult
- Bone and Bones
- Chromosomes, Human, Pair 16
- Diagnosis, Differential
- Female
- Follow-Up Studies
- Foot Deformities, Congenital
- Genetic Linkage
- Genetic Markers
- Genotype
- Hand Deformities, Congenital
- Haplotypes
- Humans
- Infant, Newborn