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Atlantoaxial dislocation in the setting of NMLFS
Journal article   Open access   Peer reviewed

Atlantoaxial dislocation in the setting of NMLFS

Yousaf Abughofah, Andrew J. Witten, Ahmed Belal and Saul Wilson
European journal of medical genetics, Vol.69, 104947
06/01/2024
DOI: 10.1016/j.ejmg.2024.104947
PMID: 38729602
url
https://doi.org/10.1016/j.ejmg.2024.104947View
Published (Version of record) Open Access

Abstract

Background 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. Case description 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. Conclusions 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.
 Atlantooccipital dislocation Craniocervical instability NABLUS syndrome NMLFS

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