1. Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.
- Author
-
Mitrakos A, Kekou K, Tilemis FN, Svingou M, Papadimas G, Sofocleous C, Traeger-Synodinos J, and Tzetis M
- Subjects
- Humans, Male, Adult, Facies, Phenotype, Blepharophimosis genetics, Blepharophimosis pathology, Blepharophimosis diagnosis, Craniofacial Abnormalities genetics, Craniofacial Abnormalities pathology, Craniofacial Abnormalities diagnosis, Abnormalities, Multiple genetics, Abnormalities, Multiple pathology, Abnormalities, Multiple diagnosis, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 8 genetics, Exome Sequencing
- Abstract
Nablus mask-like facial syndrome (NMLFS) is a rare condition characterized by unique facial features, initially described in a 4-year-old boy from Nablus, Palestine. These features include expressionless facial appearance, tight facial skin, blepharophimosis, sparse eyebrows, and a flat nose. Genetic studies have identified a deletion of 8q22.1 as the cause of the syndrome, however while 26 patients have been reported with the deletion, only 13 displayed the characteristic facial features. Here we report on a 35-year-old male with 8q21.3-q22.1 deletion identified by whole exome sequencing and Chromosomal microarray analysis (CMA) that presents with typical and atypical features, including neurodevelopmental disorder, mild facial features, and myopathy, which has not been described in a patient with NMLFS to date. Further research will be required to understand the underlying pathogenetic mechanism of this rare genetic disorder., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
- Published
- 2024
- Full Text
- View/download PDF