Neurocutaneous syndrome: A prospective study
نویسندگان
چکیده
منابع مشابه
Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
PURPOSE To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. METHODS A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. RESULTS The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL. CONCLUSION Since the skin and ocular manifestati...
متن کاملThe relationship between shift work and metabolic syndrome: a prospective cohort study
Background: Metabolic syndromes have been identified as a major risk factor for people with cardiovascular disease. Metabolic syndromes are defined as a range of conditions including waist-fat, abdominal obesity, high blood pressure, diabetes, high triglycerides, and HDL. Considering the importance of controlling metabolic syndrome, the research study subject with the mentioned aim is so import...
متن کاملCHEST PAIN IN CHILDREN A PROSPECTIVE STUDY
Thirty five children with a primary complaint of chest pain were prospectively studied. The average age was 9.7 years for boys and 8. 9 years for girls 60% were male. The most frequently diagnosed cause was psychogenic (54.2%). Forty percent of the patients were classified as having idiopathic chest pain. Precordial pain was encountered in 2. 9%), along with costochondritis and mitral val...
متن کاملOssiculoplasty: A Prospective Study of 80 Cases
Introduction: The use of ossicular graft material in ossicular chain reconstruction has significantly improved hearing results hearing after tympanoplasty and tympanomastoid surgery for chronic otitis media. Today, otologists have a wide array of tools from which to choose, but may find it difficult to know which middle ear implant works best. Materials and Methods: A prospective study of 80 ...
متن کامل5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
Haploinsufficiency of RASA1, located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation-arteriovenous malformation (CM-AVM). Recently, haploinsufficiency of MEF2C, located 1.33 Mb distal to RASA1 on chromosome 5q14.3, has been implicated as the genetic etiology underlying a complex array of deficits including mental retardation, hypotonia, a...
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: Indian Journal of Dermatology
سال: 2011
ISSN: 0019-5154
DOI: 10.4103/0019-5154.84721