Anterior cervical hypertrichosis and mental retardation
Bernard Thienpont1, Joris Vermeesch, Koen Devriendt
1Center for Human Genetics, University of Leuven, Leuven, Belgium.
Clinical Dysmorphology
|June 9, 2006
Summary
Anterior cervical hypertrichosis, a rare hairy throat condition, is presented in a new patient with moderate intellectual disability and other anomalies. Genetic analysis revealed no chromosomal abnormalities, suggesting non-syndromic presentation.
Area of Science:
- Medical Genetics
- Dermatology
- Clinical Case Reports
Background:
- Anterior cervical hypertrichosis (hairy throat) is a rare dysmorphic sign.
- Previous reports suggest an association with intellectual disability and other features.
Observation:
- A case of anterior cervical hypertrichosis is described in a patient with moderate intellectual disability.
- The patient also presented with mild facial dysmorphism, obesity, hypermetropia, and other hair anomalies.
Findings:
- Karyotype analysis was normal.
- Array comparative genomic hybridization (aCGH) at 1 Mb resolution was also normal, ruling out significant chromosomal abnormalities.
Implications:
- This case expands the limited cohort of patients with anterior cervical hypertrichosis.
- The normal genetic findings in this patient suggest potential non-syndromic causes or novel genetic factors contributing to the condition.
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