title: Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
abstract: In 2000, Teebi reported on a 4-year-old boy with a distinctive pattern of malformation, which he termed the "Nablus mask-like facial syndrome" (OMIM# 608156). Characterization of this syndrome has been difficult because of the paucity of patients described in the medical literature and its unknown etiology and pathogenesis. We present two patients with Nablus mask-like facial syndrome who both display a microdeletion in the 8q21-8q22 region detected by array-based comparative genomic hybridization. Patient 1, a boy, has a distinct facial appearance characterized by severe blepharophimosis, tight-appearing glistening facial skin, sparse and unruly hair, a flat and broad nose, and distinctive ears that are triangular in shape with prominent antihelices. He also demonstrates camptodactyly, contractures, unusual dentition, cryptorchidism, mild developmental delay, and a happy demeanor. Patient 2, a girl with a strikingly similar phenotype, was previously described in a report by Salpietro et al. 2003. She has distinctive ears, dental anomalies, and developmental delay. The etiology of her pattern of malformation was not identified at that time. Although high-resolution chromosome and subtelomeric FISH analyses were normal, array-based comparative genomic hybridization revealed an approximately 4 Mb deletion involving the 8q21.3-8q22.1 region in both patients. This region encompasses a number of genes that may contribute to this unique phenotype. These results demonstrate a chromosomal microdeletion as the etiology of Nablus mask-like facial syndrome and emphasize the diagnostic utility of array-based comparative genomic hybridization in the evaluation of multiple malformation syndromes of previously unrecognized causation.
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.
authors.forename: Joseph T C
authors.initials: JT
authors.lastname: Shieh
authors.forename: Swaroop
authors.initials: S
authors.lastname: Aradhya
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.forename: Melanie A
authors.initials: MA
authors.lastname: Manning
authors.forename: Athena M
authors.initials: AM
authors.lastname: Cherry
authors.forename: Janet
authors.initials: J
authors.lastname: Brumblay
authors.forename: Carmelo D
authors.initials: CD
authors.lastname: Salpietro
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: H Eugene
authors.initials: HE
authors.lastname: Hoyme
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D013577:Syndrome