title: [A rare polydysmorphic syndrome: leprechaunism. Review of 49 cases reported in the literature].
abstract: Leprechaunism is a very rare condition of obscure etiology. Since the first report (Donohue, 1948) 48 patients have been described. The typical stigmata are a "gnome" facies with a saddle nose, broad mouth, large and low-set ears, hirsutism, cutis laxa with atrophy of adipose tissue, dwarfism, extreme wasting, and dysphagia requiring parenteral feeding. After reviewing the literature and discussing the morphological, biological, and etiopathogenetic aspects, the authors conclude that the diagnosis of leprechaunism is essentially a clinic one, as there are no specific laboratory tests.
authors.affiliation: Département de Pédiatrie, Université de Rome La Sapienza, Italie.
authors.forename: A
authors.initials: A
authors.lastname: Cantani
authors.forename: M G
authors.initials: MG
authors.lastname: Ziruolo
authors.forename: M L
authors.initials: ML
authors.lastname: Tacconi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D013577:Syndrome
vernacular_title: Un syndrome polydysmorphique rare: le lepréchaunisme. Revue des quarante-neuf cas publiés dans la littérature.