Key signs and symptoms of NF1 Café-au-lait spots and intertriginous freckling (Figure 53.1A) Café-au-lait spots are flat, pigmented macules, and are gener- ally the first cutaneous manifestation of NF1. Often present at birth, they become apparent during the first few years of life. ...
Health-related quality of life (QoL) reflects a patient-centred view that is distinct from a medical diagnosis or a catalogue of signs and symptoms. It is influenced by, and in turn influences patients' clinical symptoms, familial and societal supports and life situation. QoL is a legitimate ...
Table 1 Frequency of clinical symptoms in patients with type-1NF1microdeletions investigated by Mautner et al. (2010) and in the general NF1 population Full size table In addition to the previously mentioned clinical features, type-1NF1microdeletion patients were found to have an increased risk ...
This mutation is associated with a mild phenotype consisting mainly of pigmentary signs (CaLS and SF) and lack of NFs. Other typical findings, including LN, OPGs and osseous dysplasia are uncommon or absent, whereas a high incidence of facial features resembling NS is observed. (c) Location ...
As magnetic resonance imaging (MRI) is not routinely performed in individuals without clinical signs/suspicion for spinal neurofibromas and/or OPGs, presence of internal neurofibromas and asymptomatic OPGs could not be excluded in all cases. If ≥2 Noonan-like features (i.e., short stature, ...
brain hamartomas can be a useful indicator for a NF1 diagnosis. This is particularly true in children where other common NF1 signs might not yet be present or fully evident. The role of paediatric hamartomas in NF1 diagnosis has been recently addressed by various authors as well [35,36,37...
Treatment is reserved for patients with a documented decline in visual acuity or significant tumor progression on MRI scan with associated symptoms and signs [8]. Although not included as NF1 diagnostic criteria, studies have reported that over 60% of children with NF1 also have learning, ...
Introduction: Otitis media with effusion is the fluid in the middle ear with no signs or symptoms of acute ear infection. Objective: This study aims to res... Kocyigit,Murat,Ortekin,... - 《International Archives of Otorhinolaryngology》 被引量: 2发表: 2017年 FREQUENCY OF FUNGI IN THE MIDD...
SIGNS AND SYMPTOMSGENETIC ENGINEERINGIDENTIFICATIONThe5-10% of NF1 patients who harbor so-called microdeletions ( ) often develop high numbers of neurofibromas at an early age. Similar enhanced tumorigenesis is not seen in pateinets with smaller deletions that remove just the NF1 gene, arguing ...
A total of 28 NF 1 children and adolescents aged from 6 months to 17 years were investigated over 7 years. Distinct symptoms were documented for the NIH criteria complimented by further signs such as macrocephaly, short stature, skeletal abnormalities, cere bral MRI changes, and menta...