Acromegaloid facial appearance (AFA) syndrome: report of a second family.
Open Access
- 1 June 1992
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 29 (6) , 419-422
- https://doi.org/10.1136/jmg.29.6.419
Abstract
A family is reported in which the 'acromegaloid facial appearance' (AFA) phenotype was segregating through two generations. The five affected persons showed a striking resemblance to the patients previously reported, including progressively coarse acromegaloid-like facial appearance, narrow palpebral fissures, bulbous nose, and thickening of the lips and intraoral mucosa, resulting in exaggerated rugae and frenula. These patients also had increased birth weight and dull mentality. It is unclear if the differences between the two families mark distinct syndromes or simply extend the AFA phenotype.Keywords
This publication has 1 reference indexed in Scilit:
- An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa.Journal of Medical Genetics, 1985