Acromegaloid facial appearance syndrome: a further case report.
We report a further patient with the acromegaloid facial appearance (AFA) syndrome. The phenotype of our patient includes a progressively coarse acromegaloid-like facial appearance with thickening of the lips and of the gums as previously described and severe learning difficulties. The patient's paternal grandmother also shows some features of the condition, suggesting autosomal dominant inheritance with incomplete penetrance in this family.
Kini
Usha
U
Academic department of Medical Genetics, St. Mary's Hospital, Manchester.
Clayton-Smith
Jill
J
D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000503:physiopathology*; D002658:Developmental Disabilities / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D013577:Syndrome