title: Acromegaloid facial appearance syndrome: a further case report.
abstract: 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.
authors.affiliation: Academic department of Medical Genetics, St. Mary's Hospital, Manchester.
authors.forename: Usha
authors.initials: U
authors.lastname: Kini
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
mesh_terms: 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