Article
Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.
American journal of medical genetics - 2 Oct 1996
Proud V K, Mussell H G, Kaler S G, Young D W, Percy A K
Abstract excerpt
To delineate further the clinical spectrum of Menkes disease, an X-linked recessive disorder of copper transport, we studied 4 related males, ranging in age from 4-38 years, with a unique phenotype that combines manifestations of classical and mild Menkes disease and occipital horn syndrome (OHS)...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Ehlers-Danlos Syndrome
- Exostoses
- Humans
- Infant
- Male
- Menkes Kinky Hair Syndrome
- Occipital Bone
- Pedigree
- Phenotype
- Radiography