Type:
Educational Exhibit
Keywords:
Developmental disease, Congenital, Diagnostic procedure, CT-High Resolution, Musculoskeletal bone, Management, Ear / Nose / Throat
Authors:
M. Diez Blanco, M. D. M. Velasco Casares, M. Hernandez Herrero, C. Mostaza Sariñena, F. Brunie Vegas, A. A. Montes Tome, G. Fernandez Perez; VALLADOLID/ES
DOI:
10.1594/ecr2018/C-0756
Background
- TERMINOLOGY:
Acrofacial dysostosis,
also known as Nager syndrome,
is a rare congenital syndrome primarily characterised by facial and skeletal anomalies.
- PATHOLOGY:
The prevalence of Nager syndrome is unknown,
however it's a very rare syndrome.
Most cases appear to be sporadic,
although autosomal dominant inheritance has been reported.
The occurrence of affected siblings with normal parents suggests an additional autosomal recessive form and adds further genetic heterogeneity.
Recently,
exome sequencing identified mutations in the SF3B4 gene (Splicing Factor 3B,
subunit 4) as a major disease causing gene responsible for autosomal dominant Nager syndrome.
It is due to aberrations in development of the first and second branchial arches and limb buds,
and,
thus,
it comprises congenital defects involving the limbs and craniofacial region.
- CLINICAL ISSUES:
This syndrome is characterized by craniofacial malformation: Down-slanting palpebral fissures,
micrognathia,
zygomatic and malar hypoplasia,
microtia/anotia and limb defects,
typically involving the radial ray,
which is a cardinal sign.
Patients present with airway obstruction and deafness.
The treatment includes airway support,
reconstructive surgery,
hearing aids and developmental support.