Craniofacial bony defect with developmental abnormality of facial bones, dental malalignment and ectopic neural tissue in the internal auditory meati--a new syndrome?

G C Colleran; R Hayes; G Kearns; P Kavanagh; E Moylett; S A Lynch

doi:10.1016/j.ejmg.2014.03.013

Craniofacial bony defect with developmental abnormality of facial bones, dental malalignment and ectopic neural tissue in the internal auditory meati--a new syndrome?

Eur J Med Genet. 2014 May-Jun;57(6):302-5. doi: 10.1016/j.ejmg.2014.03.013. Epub 2014 Apr 4.

Authors

G C Colleran¹, R Hayes², G Kearns³, P Kavanagh⁴, E Moylett⁵, S A Lynch⁶

Affiliations

¹ Department of Radiology, Our Lady's Children's Hospital Crumlin, Dublin 12, Ireland. Electronic address: gabriellecolleran@gmail.com.
² Department of Radiology, Our Lady's Children's Hospital Crumlin, Dublin 12, Ireland.
³ Maxillofacial Surgery, Our Lady's Children's Hospital Crumlin, Dublin 12, Ireland.
⁴ Department of Orthodontics, Galway University Hospitals, Galway, Ireland.
⁵ Academic Department of Paediatrics, National University of Ireland Galway, Ireland.
⁶ National Centre for Medical Genetics, Our Lady's Children's Hospital Crumlin, Dublin 12, Ireland.

PMID: 24705061
DOI: 10.1016/j.ejmg.2014.03.013

Abstract

We present a previously undescribed skeletal dysplasia with dental anomalies and ectopic neural tissue in the internal auditory meati.

Keywords: Chiari I malformation; Delayed bone age; Ectopic neural tissue in the internal auditory meati; Hypoplastic facial bones with undulating contour; Malalignment of teeth; Marked thinning of mandible with poor development of medullary cavity; Over folded auricular helices.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Abnormalities, Multiple / pathology*
Bone Diseases, Developmental / pathology*
Child
Child, Preschool
Choristoma / pathology
Craniofacial Abnormalities / pathology*
Facial Bones / abnormalities*
Female
Humans
Nerve Tissue
Syndrome
Tooth Abnormalities / pathology*