Congenital Cataracts – Facial Dysmorphism – Neuropathy
نویسندگان
چکیده
منابع مشابه
Congenital 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 کاملCognitive 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 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 کاملFacial dysmorphism across the fetal alcohol spectrum.
OBJECTIVE Classic facial characteristics of fetal alcohol syndrome (FAS) are shortened palpebral fissures, smooth philtrum, and thin upper vermillion. We aim to help pediatricians detect facial dysmorphism across the fetal alcohol spectrum, especially among nonsyndromal heavily exposed (HE) individuals without classic facial characteristics. METHODS Of 192 Cape Coloured children recruited, 69...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2006
ISSN: 1750-1172
DOI: 10.1186/1750-1172-1-32