title: [Clinical diagnosis of familial Levy-Hollister syndrome].
abstract: Lacrimo-auriculo-dento-digital syndrome (LADD syndrome), also known as Levy-Hollister syndrome, is an autosomal dominant defect with variability on phenotypical expression. This syndrome is characterised by the association of dysplasia in various organs and systems that affect craniofacial structures, including lachrymal and salivary glands, teeth, internal and external ear, and the bone skeleton. We present this unusual and almost unknown syndrome (the first case in our state, with only about 100 cases described in the world, distributed in a few families) in a teenager of 17 years admitted to PICU for another reason. After the physical examination, a clinical diagnosis was made in the entire family branch.
authors.affiliation: Unidad de Cuidados Intensivos Pediátricos, Hospital Universitari Sant Joan de Déu, Barcelona, España. Electronic address: dvila@hsjdbcn.org.
authors.forename: D
authors.initials: D
authors.lastname: Vila Pérez
authors.affiliation: Unidad de Cuidados Intensivos Pediátricos, Hospital Universitari Sant Joan de Déu, Barcelona, España.
authors.forename: D
authors.initials: D
authors.lastname: Palanca Arias
authors.affiliation: Servicio de Genética, Hospital Universitari Sant Joan de Déu, Barcelona, España.
authors.forename: E
authors.initials: E
authors.lastname: Gean Molins
authors.affiliation: Unidad de Cuidados Intensivos Pediátricos, Hospital Universitari Sant Joan de Déu, Barcelona, España.
authors.forename: A
authors.initials: A
authors.lastname: Palomeque Rico
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D034381:Hearing Loss / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013576:Syndactyly / Q000175:diagnosis* / Q000235:genetics*; D014071:Tooth Abnormalities / Q000175:diagnosis* / Q000235:genetics*
keywords: Lacrimo-auriculo-dento-digital syndrome; Levy-Hollister syndrome; Síndrome de Levy-Hollister; Síndrome lácrimo-aurículo-dento-digital