Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome

R Rizzo; L Pavone; G Micali; J G Hall

doi:10.1111/j.1399-0004.1993.tb03832.x

Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome

Clin Genet. 1993 Jul;44(1):1-7. doi: 10.1111/j.1399-0004.1993.tb03832.x.

Authors

R Rizzo¹, L Pavone, G Micali, J G Hall

Affiliation

¹ Pediatric Clinic, Catania University, Italy.

PMID: 8403448
DOI: 10.1111/j.1399-0004.1993.tb03832.x

Abstract

A family in whom several members are affected with nail-patella dysplasia is reported because of severe renal involvement and bilateral antecubital pterygia. The family presented as arthrogryposis because of the elbow contractures.

Publication types

Case Reports
Review

MeSH terms

ABO Blood-Group System
Adolescent
Bone and Bones / abnormalities
Elbow / abnormalities*
Female
Humans
Iris / abnormalities*
Kidney Diseases / genetics*
Male
Middle Aged
Nail-Patella Syndrome / genetics*

Substances

ABO Blood-Group System