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: Bernard Thienpont, Joris Vermeesch, Koen Devriendt
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 15 Issue 3 Pg. 189-190 (Jul 2006) ISSN: 0962-8827 [Print] England
• PMID: 16760744 (Publication Type: Case Reports, Comparative Study, Journal Article)

Topics

• Abnormalities, Multiple (genetics, pathology)
• Child
• Face (abnormalities)
• Female
• Genome, Human
• Humans
• Hyperopia (pathology)
• Hypertrichosis (pathology)
• Intellectual Disability (pathology)
• Karyotyping
• Lumbosacral Region
• Neck
• Nucleic Acid Hybridization (methods)