In 2000 Teebi described a 4-year-old boy with an unusual facial appearance and called the distinct phenotype “Nablus mask-like facial syndrome.” Characterization of this syndrome has been difficult due to the paucity of patients described in the literature and its unknown genetic basis. We present two patients with Nablus mask-like facial syndrome and determine that they have deletions in 8q21-8q22 detected using array-based comparative genomic hybridization. Patient 1 is a male with a distinct facial appearance characterized by severe blepharophimosis, tight-appearing glistening facial skin, sparse and unruly hair, a flat but broad nose, and dysplastic ears that were triangular in shape with prominent antihelices. He has camptodactyly, contractures, unusual dentition, cryptorchidism, mild developmental delay, and a happy demeanor. Patient 2 is a female with a strikingly similar facial appearance, characteristic dysplastic ears, dental anomalies, and developmental delays who was previously described in a report by Salpietro et al in 2003; however, a genetic cause for her malformations was not identified. Although high-resolution chromosome analysis and FISH analysis using subtelomeric probes were normal in both patients, array-based comparative genomic hybridization revealed a ≈4 Mb deletion of the 8q21.3-8q22.1 region in both cases. These results demonstrate a cryptic chromosomal deletion as the etiology to Nablus mask-like facial syndrome. Furthermore, the region of 8q deleted in these patients encompasses a number of genes that likely contribute to this unique phenotype.
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