neurofibromatosis
Conditions
Interventions
Gold Standard:
Index test:
Sponsors
Shanghai 9th People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine
Eligibility
Sex/Gender
All
Age
10 Years to 45 Years
Inclusion criteria
Inclusion criteria: In accordance with the 1987 NIH clinical criteria for diagnosis of NF1 patients Patient with neurofibromatosis 1 according the NIH criteria : 1. Six or more café au lait macules over 15 mm in greatest diameter in postpubertal individuals; 2. Two or more neurofibromas of any type or one plexiform neurofibroma; 3. Freckling in the axillary or inguinal regions (Crowe's sign); 4. Optic glioma; 5. Two or more Lisch nodules (iris hamartomas); 6. A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis; 7. A first-degree relative (parent, sibling, or offspring) with NF1 by the above criteria; 8. The criteria are met in an individual if two or more of the features listed are present. Healthy people 1. Diagnosed during 2011 to 2018; 2. male and female aged 10 years old - 45 years old; 3. the blood routine index in normal range.
Exclusion criteria
Exclusion criteria: 1) at the same time with other infectious diseases; 3) abnormal blood routine index; 4) participating in other clinical trials of patients; 5) researchers believe that other reasons are not suitable for clinical trials.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Pathogenic mutation site; | — |
Countries
China
Contacts
Public ContactXiaojie Hu
Shanghai 9th People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine
Outcome results
None listed