Atlantoaxial dislocation in the setting of NMLFS

Yousaf Abughofah; Andrew J Witten; Ahmed Belal; Saul Wilson

doi:10.1016/j.ejmg.2024.104947

Atlantoaxial dislocation in the setting of NMLFS

Eur J Med Genet. 2024 May 8:104947. doi: 10.1016/j.ejmg.2024.104947. Online ahead of print.

Authors

Yousaf Abughofah¹, Andrew J Witten², Ahmed Belal², Saul Wilson³

Affiliations

¹ Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
² Indiana University Department of Neurological Surgery, Indianapolis, IN, 46202, USA.
³ Indiana University Department of Neurological Surgery, Indianapolis, IN, 46202, USA. Electronic address: swilson63@iuhealth.org.

PMID: 38729602
DOI: 10.1016/j.ejmg.2024.104947

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.

Keywords: Atlantooccipital dislocation; NABLUS syndrome; NMLFS; craniocervical instability.

Publication types

Case Reports