Presymptomatic Diagnosis of Neurofibromatosis 2

J Gordon Millichap

doi:10.15844/pedneurbriefs-10-12-8

Abstract

The clinical spectrum of neurofibromatosis 2 (NF2) at the time of presymptomatic DNA diagnosis in at-risk first-degree relatives in five families were studied at the Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, and the Neurofibromatosis Institute, La Crescenta, CA.

Highlights

Of all juvenile patients referred because of recurrent headache, is reported from the Paediatric Neurology Services of the University of Ferrara and the University of Padua, Italy
NEURAL TUBE DEFECTS AND CHROMOSOME DELETIONS Patients with neural tube defects (NTDs) complicated by congenital heart defects, facial anomalies, thymic hypoplasia, cleft lip or palate, or hypocalcemia and a family history of NTDs and other anomalies were tested for 22qll deletions at the Departments of Pediatrics and Molecular Genetics, Oregon Health Sciences University, Eugene, Oregon
Of 295 patients identified with NTDs, 22 had at least one more clinical anomaly and/or a positive family history

Summary

Introduction

Of all juvenile patients referred because of recurrent headache, is reported from the Paediatric Neurology Services of the University of Ferrara and the University of Padua, Italy. NEURAL TUBE DEFECTS AND CHROMOSOME DELETIONS Patients with neural tube defects (NTDs) complicated by congenital heart defects, facial anomalies, thymic hypoplasia, cleft lip or palate, or hypocalcemia and a family history of NTDs and other anomalies were tested for 22qll deletions at the Departments of Pediatrics and Molecular Genetics, Oregon Health Sciences University, Eugene, Oregon. Of 295 patients identified with NTDs, 22 had at least one more clinical anomaly and/or a positive family history.

Results

Conclusion