Mietens syndrome is an autosomal recessive disorder first described by Mietens and Weber. The condition is named after a German physician named Carl Mietens.
Only 9 cases have been reported. __TOC__
Symptoms and signs
Intellectual disability Flat feet Crossed eyes Severe postnatal growth retardation Nystagmus Narrow nose Short forearm bones Absent proximal radial epiphyses Autosomal recessive inheritance Dislocated radial head Sclerocornea has been reported in this condition.
History In 1966, Carl Mietens and Helge Weber reported cases of four children, 3 sisters and 1 brother who suffered from a cluster of congenital anomalies and intellectual disabilities.
In 2006, two documented has been reported.
References