title: Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
abstract: Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gómez-López-Hernández syndrome, RES also occurs in conjunction with VACTERL features and with holoprosencephaly (HPE). We sought to determine the full phenotypic spectrum of RES in a large cohort of patients. Information was obtained through database review, patient questionnaire, radiographic, and morphologic assessment, and statistical analysis. We assessed 53 patients. Thirty-three had alopecia, 3 had trigeminal anesthesia, 14 had VACTERL features, and 2 had HPE with aventriculy. Specific craniofacial features were seen throughout the cohort, but were more common in patients with alopecia. We noted substantial overlap between groups. We conclude that although some distinct subgroups can be delineated, the overlapping features seen in our cohort suggest an underlying spectrum of RES-associated malformations rather than a collection of discrete syndromes.
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, USA. hmtully@uw.edu
authors.forename: Hannah M
authors.initials: HM
authors.lastname: Tully
authors.forename: Jennifer C
authors.initials: JC
authors.lastname: Dempsey
authors.forename: Gisele E
authors.initials: GE
authors.lastname: Ishak
authors.forename: Margaret P
authors.initials: MP
authors.lastname: Adam
authors.forename: Cynthia J R
authors.initials: CJ
authors.lastname: Curry
authors.forename: Pedro
authors.initials: P
authors.lastname: Sanchez-Lara
authors.forename: Alasdair
authors.initials: A
authors.lastname: Hunter
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
authors.forename: Judith
authors.initials: J
authors.lastname: Allanson
authors.forename: Christopher
authors.initials: C
authors.lastname: Cunniff
authors.forename: Ian
authors.initials: I
authors.lastname: Glass
authors.forename: Kathleen J
authors.initials: KJ
authors.lastname: Millen
authors.forename: Daniel
authors.initials: D
authors.lastname: Doherty
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000473:pathology*; D001003:Anal Canal / Q000002:abnormalities / Q000473:pathology; D002526:Cerebellar Diseases / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000473:pathology*; D004947:Esophagus / Q000002:abnormalities / Q000473:pathology; D005260:Female; D006130:Growth Disorders / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000473:pathology; D016142:Holoprosencephaly / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000473:pathology; D008297:Male; D020752:Neurocutaneous Syndromes / Q000473:pathology*; D010641:Phenotype; D012249:Rhombencephalon / Q000002:abnormalities* / Q000473:pathology*; D013131:Spine / Q000002:abnormalities / Q000473:pathology; D014132:Trachea / Q000002:abnormalities / Q000473:pathology; D055815:Young Adult