Otopalatodigital syndrome type I: New temporal bone CT-scan sign in a case with a de novo novel mutation

Acta Otorrinolaringol Esp (Engl Ed). 2019 Sep-Oct;70(5):306-309. doi: 10.1016/j.otorri.2018.05.003. Epub 2018 Aug 4.

[Article in English, Spanish]

Authors

Marta Martínez-López¹, Ana Navedo², Reyes López De Mesa², Francisco Javier Cervera-Paz³

Affiliations

¹ Department of Otorhinolaryngology, University of Navarra Hospital and Medical School, Pamplona, Spain.
² Department of Pediatrics, University of Navarra Hospital and Medical School, Pamplona, Spain.
³ Department of Otorhinolaryngology, University of Navarra Hospital and Medical School, Pamplona, Spain. Electronic address: jcervera@unav.es.

PMID: 30086887
DOI: 10.1016/j.otorri.2018.05.003

No abstract available

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / diagnostic imaging
Abnormalities, Multiple / genetics
Braces
Child
Craniofacial Abnormalities / diagnostic imaging*
Craniofacial Abnormalities / genetics
Early Diagnosis
Exons / genetics
Female
Filamins / genetics*
Hand Deformities, Congenital / diagnostic imaging*
Hand Deformities, Congenital / genetics
Heterozygote
Humans
Osteochondrodysplasias / diagnostic imaging*
Osteochondrodysplasias / genetics
Pectus Carinatum / etiology
Pectus Carinatum / therapy
Phenotype
Point Mutation*
Temporal Bone / diagnostic imaging*
Tomography, X-Ray Computed*

Substances

FLNA protein, human
Filamins

Supplementary concepts

Oto-Palato-digital syndrome type 1