WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.

Abstract excerpt

Osteopathia striata with cranial sclerosis (OS-CS) or Horan-Beighton syndrome is a rare X-linked dominant inherited bone dysplasia, characterized by longitudinal striations of long bones and cranial sclerosis. Patients can be asymptomatic or present with typical facial dysmorphism, sensory defects, internal organs anomalies, growth and mental retardation, depending on the severity of the disease. WTX gene (Xq11)...

Topics

• Adaptor Proteins, Signal Transducing
• Child
• Female
• Humans
• Male
• Mutation
• Osteosclerosis
• Pedigree
• Syndrome
• Tumor Suppressor Proteins