First Report of a Filipino with Mohr-Tranebjaerg Syndrome
نویسندگان
چکیده
منابع مشابه
Report of a case of Proteus syndrome with severe anemia
Proteus syndrome is a rare congenital disorder comprised of subcutaneous and internal hamartomas, miscellaneous skin and vascular nevi, skeletal and nervous system and eye malformations, with characteristic manifestations including hemihypertrophy, local gigantism, macrodactyly and cerebriform thickness of soles and palms. A 23 year-old man with diagnosis of proteus syndrome had sever ane...
متن کاملPHACES syndrome with cataract and Horner’s syndrome: a case report
PHACES syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Cardiac Defects and Coarctation of the Aorta, Eye Abnormalities, and Sternal Abnormalities or Ventral Developmental Defects) is a rare neurocutaneous syndrome, which characteristic feature is large segmental hemangioma. Extracutaneous involvement is an important cause of morbidity in this syndrome.<br /...
متن کاملHypoparathyroidism as the First Mani-Festation of Kearns-Sayre Syndrome: A Case Report
Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms of this condition include retinitis pigmentosa, chronic progressive external ophthalmoplegia, and one or more of the following factors: cardiac conduction system diseases, cerebellar ataxia, and cerebrospinal fluid (CSF) with protein content above 100 mg/dL. The nature of thi...
متن کاملMacrophage Activation Syndrome as the First Impression of Kawasaki Disease; A Case Report
Introduction Macrophage activation syndrome (MAS) is a rare and life-threatening complication of Kawasaki Disease (KD) that is usually diagnosed at the same time or after KD. We report a case of MAS as the initial manifestation of KD. Case Report A previously healthy 3-year old girl was admitted to the pediatric infectious di...
متن کاملA Case Report of a Syndrome
Un cas de Syndrome de Rubinst.ein-Taybi Un enfant age de 13 mois s'adres'se pour des troubles digestifs et respiratoires. Il presenfait un elargissements de Ia phalange -terminale du ponce et du gros orteil, la voute palatine ogivale, et -une dysmorphie faciale caracteristique: nez aquilin obliquite anti -maJ ourlees et implantee-s basses. Le retard mental nez avcc un retard statural moins ...
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: Movement Disorders Clinical Practice
سال: 2015
ISSN: 2330-1619
DOI: 10.1002/mdc3.12210