Norrie's Disease. A Congenital Progressive Oculo-acoustico-cerebral Degeneration
نویسندگان
چکیده
منابع مشابه
Norrie's disease in an Asian family.
Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family ...
متن کاملCongenital oculo-bulbar palsy.
A girl developed progressive weakness of bulbar and ocular muscles starting before the age of two years. Electromyography revealed a widespread subclinical myopathy. An intercostal muscle biopsy showed complex abnormalities including occasional neurofilamentous accumulations and honeycomb-like membranous material in terminal axons. Endplates were small and some secondary synaptic clefts were ab...
متن کاملCo-existence of Two Rare Conditions: Oculo-Palato-Cerebral Syndrome and Congenital Chylothorax
Background: Oculo-palato-cerebral syndrome is an extremely rare condition characterized by various features, including low-birth weight, microcephaly, cerebral atrophy, mild-to-severe developmental delay, cleft palate, persistent hyperplastic primary vitreous, microphthalmia, small hands and feet, joint laxity, and large ears with thick helices. Diagnosis of this syndrome is based on the clinic...
متن کاملProgressive retinal degeneration and dysfunction in R6 Huntington's disease mice.
Huntington's disease (HD) and spinocerebellar ataxia type 7 (SCA7) belong to a group of progressive neurodegenerative diseases caused by polyglutamine (polyQ) expansions. SCA7 is the only one to display degeneration in the retina, a tissue usually spared in HD. We previously described a SCA7 transgenic retinal model expressing mutant full length ataxin-7 in rod photoreceptors. These mice develo...
متن کامل[Oculo-auriculo-vertebral spectrum in patients with congenital heart defects].
BACKGROUND there have been few studies evaluating the frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with congenital heart defects (CHDs). OBJECTIVE to verify the frequency of OAVS in a sample of patients with major heart malformations. METHODS we evaluated a prospective cohort of patients with CHD admitted in a pediatric cardiac intensive care unit (ICU) in Brazil. The d...
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: Journal of Medical Genetics
سال: 1968
ISSN: 1468-6244
DOI: 10.1136/jmg.5.1.79