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[Clinical diagnosis of familial Levy-Hollister syndrome].
An Pediatr (Barc). 2014 Feb; 80(2):114-6.AP

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+Show Affiliations

Unidad de Cuidados Intensivos Pediátricos, Hospital Universitari Sant Joan de Déu, Barcelona, España. Electronic address: dvila@hsjdbcn.org.Unidad de Cuidados Intensivos Pediátricos, Hospital Universitari Sant Joan de Déu, Barcelona, España.Servicio de Genética, Hospital Universitari Sant Joan de Déu, Barcelona, España.Unidad de Cuidados Intensivos Pediátricos, Hospital Universitari Sant Joan de Déu, Barcelona, España.

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

23562527

Citation

Vila Pérez, D, et al. "[Clinical Diagnosis of Familial Levy-Hollister Syndrome]." Anales De Pediatria (Barcelona, Spain : 2003), vol. 80, no. 2, 2014, pp. 114-6.
Vila Pérez D, Palanca Arias D, Gean Molins E, et al. [Clinical diagnosis of familial Levy-Hollister syndrome]. An Pediatr (Barc). 2014;80(2):114-6.
Vila Pérez, D., Palanca Arias, D., Gean Molins, E., & Palomeque Rico, A. (2014). [Clinical diagnosis of familial Levy-Hollister syndrome]. Anales De Pediatria (Barcelona, Spain : 2003), 80(2), 114-6. https://doi.org/10.1016/j.anpedi.2013.02.019
Vila Pérez D, et al. [Clinical Diagnosis of Familial Levy-Hollister Syndrome]. An Pediatr (Barc). 2014;80(2):114-6. PubMed PMID: 23562527.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinical diagnosis of familial Levy-Hollister syndrome]. AU - Vila Pérez,D, AU - Palanca Arias,D, AU - Gean Molins,E, AU - Palomeque Rico,A, Y1 - 2013/04/02/ PY - 2012/11/01/received PY - 2013/01/29/revised PY - 2013/02/24/accepted PY - 2013/4/9/entrez PY - 2013/4/9/pubmed PY - 2015/4/14/medline KW - Lacrimo-auriculo-dento-digital syndrome KW - Levy-Hollister syndrome KW - Síndrome de Levy-Hollister KW - Síndrome lácrimo-aurículo-dento-digital SP - 114 EP - 6 JF - Anales de pediatria (Barcelona, Spain : 2003) JO - An Pediatr (Barc) VL - 80 IS - 2 N2 - 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. SN - 1695-9531 UR - https://www.unboundmedicine.com/medline/citation/23562527/[Clinical_diagnosis_of_familial_Levy_Hollister_syndrome]_ L2 - http://www.elsevier.es/en/linksolver/ft/pii/S1695-4033(13)00091-X DB - PRIME DP - Unbound Medicine ER -