Cranio-orbital-temporal neurofibromatosis: An uncommon subtype of neurofibromatosis type-1
نویسندگان
چکیده
منابع مشابه
Unilateral and multiple nodular plexiform Neurofibromas: An uncommon presentation of Neurofibromatosis type 1
Plexiform neurofibroma is a rare variant but pathognomonic of von Recklinghausen disease. We report an uncommon presentation of neurofibromatosis type I in a girl. This 11-year old girl had multiple plexiform neurofibromas on her left hand, and also several Lisch’s nodules. Classification and clinical features are discussed briefly with emphasis on the possibility this condition may not be give...
متن کاملSegmental Neurofibromatosis Type 1, a Rare Variant of Neurofibromatosis: Report of Two Cases
Segmental neurofibromatosis type I (SNF-I) is a rare variant of neurofibromatosis (NF). It is classified as NF type V and defined as cafe'-au-lait macules and/or neurofibromas in a single ,unilateral segment of the body .We report two cases with SNF-I with striking similar manifestations.
متن کاملWatson syndrome: is it a subtype of type 1 neurofibromatosis?
Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence. Short stature is an additional feature of this autosomal dominant condition. A fourth family with Watson syndrome has since been reported. We have had the opportunity to review members of three of these four families. The clinical phenoty...
متن کاملNeurofibromatosis type 1 revisited.
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of approximately 1 per 2500 to 3000 individuals. Caused by a germ-line-inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical...
متن کاملCranio-orbital anomalies in Von Recklinghausen neurofibromatosis simulating an intraorbital space-occupying lesion.
From the Division of Neurosurgery (Drs. El-Watidy, A. Jamjoom, Z. Jamjoom), King Khalid University Hospital, Riyadh and Department of Neurosurgery (Or. Selen), Northern Area Armed Forces Hospital, Hafer AI-Batin. Address reprint requests and correspondence to Or. A. Jamjoom: Consultant Neurosurgeon, Division of Neurosurgery, King Khalid University Hospital, p.a. Box 2925, Riyadh 11461, Saudi Ar...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Oman Journal of Ophthalmology
سال: 2014
ISSN: 0974-620X
DOI: 10.4103/0974-620x.127934