title: Anterior cervical hypertrichosis and mental retardation.
abstract: Anterior cervical hypertrichosis or hairy throat is a rare dysmorphic sign described in a total of 19 patients so far. The association with a number of additional features has been reported, including mental retardation. We report on another patient with this condition who also had moderate mental retardation, mildly dysmorphic facial features, obesity, hypermetropia and additional hair anomalies (low dorsal hair line on the neck, lumbosacral hypertrichosis). Karyotype and array comparative genomic hybridization analysis at 1 Mb resolution were normal.
authors.affiliation: Center for Human Genetics, University of Leuven, Leuven, Belgium.
authors.forename: Bernard
authors.initials: B
authors.lastname: Thienpont
authors.forename: Joris
authors.initials: J
authors.lastname: Vermeesch
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D015894:Genome, Human; D006801:Humans; D006956:Hyperopia / Q000473:pathology; D006983:Hypertrichosis / Q000473:pathology*; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D008161:Lumbosacral Region; D009333:Neck; D009693:Nucleic Acid Hybridization / Q000379:methods