title: Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype.
abstract: Here, we evaluate linguistic skills and neuropsychological performance in a sample of patients with SHH mutations and a holoprosencephaly (HPE)-like phenotype, a minor form of classic HPE. Our findings suggest that patients with SHH mutations and a HPE-like phenotype have normal cognitive ratios and significant language impairment. Imaging evaluation by magnetic resonance imaging (MRI) was normal in three patients and in one there was hypoplasia of the anterior commissure and the presence of a temporal cyst, apparently not related to the clinical findings.
authors.affiliation: Division of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, University of São Paulo, Bauru, Brazil.
authors.forename: Giselda
authors.initials: G
authors.lastname: Santiago
authors.forename: Dagma Venturini Marques
authors.initials: DV
authors.lastname: Abramides
authors.forename: Luciana Paula Maximino
authors.initials: LP
authors.lastname: De-Vitto
authors.forename: Lucilene Arilho
authors.initials: LA
authors.lastname: Ribeiro
authors.forename: Silvio Garcia
authors.initials: SG
authors.lastname: Meira
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D005260:Female; D053823:Hedgehog Proteins / Q000235:genetics*; D016142:Holoprosencephaly / Q000235:genetics* / Q000473:pathology / Q000523:psychology*; D006801:Humans; D007360:Intelligence; D007805:Language Development Disorders / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009483:Neuropsychological Tests; D010641:Phenotype
chemical_list: D053823:Hedgehog Proteins; C509239:SHH protein, human