Osteoglophonic dwarfism
Overview
A form of dwarfism characterized by premature fusion of skull bones, short limbs and digits, facial abnormalities and bone development anomalies.
Symptoms
* Distorted face * Widely spaced eyes * Metaphyseal bone abnormalities * Premature fusion of skull bones * Small jaw
Diagnosis
1. Is there disproportion of the trunk and extremities? These findings would suggest achondrodysplasia. 2. Is there obesity? The finding of obesity would suggest Fröhlich's syndrome, Laurence-Moon-Bardet-Biedl syndrome, and Brissaud's infantilism. 3. Is there appearance of wasting and/or malnutrition? The presence of wasting or other signs of malnutrition suggests chronic nephritis, congenital heart disease, progeria, malnutrition, and rickets. 4. Is there an unusual appearance to the skull or face? These findings suggest mongolism, cretinism, microcephaly, hydrocephalus, and cleidocranial dysostosis, among other conditions. 5. Are there abnormal secondary sex characteristics? The development of secondary sex characteristics is impaired in Turner's syndrome and pituitary dwarfism.