Atlantoaxial dislocation in the setting of NMLFS

Nablus mask-like facial syndrome (NMFLS) is an extremely rare genetic syndrome characterized by facial dysmorphia as well as developmental delay. In the present report we describe a potential association between non-traumatic atlanto-occipital dislocation and NMFLS in an 11-year old female lacking t...

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Bibliographic Details
Published in:European journal of medical genetics 2024-06, Vol.69, p.104947-104947, Article 104947
Main Authors: Abughofah, Yousaf, Witten, Andrew J., Belal, Ahmed, Wilson, Saul
Format: Article
Language:English
Subjects:
Atlanto-Axial Joint - diagnostic imaging
Atlanto-Axial Joint - pathology
Atlanto-Occipital Joint - abnormalities
Atlanto-Occipital Joint - diagnostic imaging
Atlanto-Occipital Joint - pathology
Atlantooccipital dislocation
Child
Craniocervical instability
Female
Humans
Joint Dislocations - diagnostic imaging
Joint Dislocations - pathology
NABLUS syndrome
NMLFS
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Summary:Nablus mask-like facial syndrome (NMFLS) is an extremely rare genetic syndrome characterized by facial dysmorphia as well as developmental delay. In the present report we describe a potential association between non-traumatic atlanto-occipital dislocation and NMFLS in an 11-year old female lacking typical facial features of NMFLS. An 11-year-old female with autism presented with symptoms of persistent headache and vomiting as well as neck stiffness. Further investigation and CT imaging revealed congenital malformation of the skull base and craniocervical junction with complete posterior subluxation of the left occipital condyle. MRI findings later corroborated the findings on CT. The patient was successfully treated with occipitocervical fusion. The findings in this case suggest the possibility that atlanto-occipital instability and generalized occipitocervical may be associated with NMFLS.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2024.104947