Anterior cervical hypertrichosis and mental retardation.
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.
Thienpont
Bernard
B
Center for Human Genetics, University of Leuven, Leuven, Belgium.
Vermeesch
Joris
J
Devriendt
Koen
K
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