Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome
نویسندگان
چکیده
منابع مشابه
Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome
Congenital cataracts, facial dysmorphism, neuropathy (CCFDN) syndrome is a complex autosomal recessive multisystem disorder. The aim of the current study is to evaluate the degree of cognitive impairment in a cohort of 22 CCFDN patients and its correlation with patients' age, motor disability, ataxia, and neuroimaging changes. Twenty-two patients with genetically confirmed diagnosis of CCFDN un...
متن کاملCongenital Cataracts – Facial Dysmorphism – Neuropathy
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnosed. Developmental abnormalities include congenital cataracts and microcorneae, primary hypomyelination of the peripheral nervous sys...
متن کاملLinkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.
The Marinesco-Sjögren syndrome (MSS) (MIM 248800) is an autosomal recessive condition characterised by cataracts, ataxia, and growth and mental retardation. Chronic myopathy is a common feature. Peripheral neuropathy and acute rhabdomyolysis have been described occasionally in MSS. To date, no gene for it has been localised. Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN) (M...
متن کاملLETTER TO JMG Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome
The Marinesco-Sjögren syndrome (MSS) (MIM 248800) is an autosomal recessive condition characterised by cataracts, ataxia, and growth and mental retardation. Chronic myopathy is a common feature. Peripheral neuropathy and acute rhabdomyolysis have been described occasionally in MSS. To date, no gene for it has been localised. Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN) (M...
متن کاملIdentification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
PURPOSE The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molec...
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ژورنال
عنوان ژورنال: Behavioural Neurology
سال: 2015
ISSN: 0953-4180,1875-8584
DOI: 10.1155/2015/639539