Article
[Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report].
Ideggyogyaszati szemle - 30 May 2007
Siska Eva, Neuwirth Magdolna, Rebecca Gooding, Molnár Mária Judit
Abstract excerpt
The congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome (OMIM 604168) is a recently described autosomal recessive developmental disorder. It is almost completely restricted to an endogamous group of the European Vlax Roma population, called the Rudari. The CCFDN syndrome is a complex phenotype involving multiple systems, characterized by facial dysmorphism, congenital cataracts, microcorneae,...
Topics
- Adolescent
- Brain
- Cataract
- Child
- Child, Preschool
- Developmental Disabilities
- Facial Nerve Diseases
- Female
- Humans
- Hungary
- Infant
- Magnetic Resonance Imaging