Article
Occipital horn syndrome: report of a patient and review of the literature.
Clinical genetics - 1 Jan 1994
Tsukahara M, Imaizumi K, Kawai S, Kajii T
Abstract excerpt
We report an 18-year-old boy with occipital horn syndrome and we review the 20 cases previously published with this syndrome. The distinctive features common to all patients were unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary abnormalities. The skeletal abnormalities included occipital horns, short, broad clavicles, deformed radii, ulnae, and humeri, narrowing of the rib...
Topics
- Adolescent
- Ehlers-Danlos Syndrome
- Family
- Humans
- Male
- Phenotype