Fraser syndrome in a 96-year-old female.
Fraser syndrome is an autosomal recessive disorder in which the life expectancy is <1 year. The main features are cryptophthalmos, ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver and central nervous system (CNS). We report the clinical, laboratory and post-mortem findings of this condition in an elderly woman aged 96 years. She is the oldest known patient with Fraser syndrome.
Impallomeni
Mario
M
Imperial College London, London, UK.
Subramanian
Deepak
D
Mahmood
Nazim
N
Illes
Joseph
J
Joseph
Illes
I
D000367:Age Factors; D000369:Aged, 80 and over; D005143:Eyelids / Q000002:abnormalities*; D005145:Face / Q000473:pathology; D005260:Female; D006801:Humans; D013576:Syndactyly / Q000473:pathology*; D013577:Syndrome