Targeted Genetic Testing Uncovers a Novel LRP4 Variant in Cenani-Lenz Syndactyly Syndrome.

Abstract excerpt

Cenani-Lenz syndactyly syndrome (CLSS, OMIM 212780) is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of the digits, fusion of carpal and tarsal bones, and radioulnar synostosis. Craniofacial anomalies and renal malformations have been reported in approximately half of cases, with variable expression. The condition results from homozygous or compound heterozygous mutations in the...

Topics

• Humans
• Syndactyly
• LDL-Receptor Related Proteins
• Male
• Child
• Pedigree
• Female