Síndrome de Potocki-Lupskia propósito de un caso

  1. Carmen Martín Sanjuán 1
  2. María Berriatua Ena 1
  3. Clara Sandibel Garcete
  4. Cecilia Godoy Velasco
  5. Laura Angullo Santos
  6. Elena Mera Barajas
  7. José María Guijarro Espinosa de los Monteros
  8. Lisbeth Melchora Macote Orosco
  9. Daniela Martínez Albornoz
  10. Melissa Flores Gómez
  11. Daniela Barahona Herrera
  1. 1 Servicio Madrileño de Salud
    info

    Servicio Madrileño de Salud

    Madrid, España

Journal:
Científica dental: Revista científica de formación continuada

ISSN: 1697-6398

Year of publication: 2018

Volume: 15

Issue: 2

Pages: 41-44

Type: Article

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More publications in: Científica dental: Revista científica de formación continuada

Abstract

Potocki-Lupski syndrome is one of the socalled rare and recently discovered diseases. It is a microduplication of chromosome 17p11.2. Clinical variability is great, being encompassed as a neuromuscular disease and presenting with hypotonia, failure to thrive, some degree of spectrum autism, ophthalmological alterations and cardiac defects. At the stomatognathic level they may present micro and retrognathia, dental alterations, malocclusion and cleft palate. We present the clinical case of a patient with this diagnosis for dental treatment with caries in permanent first molars that did not present the before mentioned pathologies.

Data source: Dialnet