Article
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
American journal of medical genetics. Part A - 1 Feb 2013
Rush Eric T, Adam Margaret P, Clark Robin D, Curry Cynthia, Hartmann Julianne E, Dobyns William B, Olney Ann Haskins
Abstract excerpt
Gomez-Lopez-Hernandez syndrome (GLHS) is a rare neurocutaneous disorder. We are aware of thirty previously reported cases. We present four additional patients with this condition. Previously reported patients have shown the hallmark triad of rhombocephalosynapsis, trigeminal anesthesia, and bilateral parietal or parieto-occipital alopecia. Rhombencephalosynapsis consists of agenesis of the cerebellar vermis,...
Topics
- Abnormalities, Multiple
- Alopecia
- Cerebellum
- Child
- Child, Preschool
- Corneal Diseases
- Craniofacial Abnormalities
- Female
- Growth Disorders
- Humans
- Hypesthesia
- Male
- Neurocutaneous Syndromes
- Phenotype
- Rhombencephalon