Related Experiment Videos
Miller postaxial acrofacial dysostosis. The phenotypic changes with age
1Department of Human Genetics, Memorial Hospital Child Health Centre, Warsaw, Poland.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1993
Summary
Miller postaxial acrofacial dysostosis syndrome in a child showed improved psychomotor and social function with hearing aid use. Facial features evolved, becoming more asymmetric and triangular over time.
Area of Science:
- Clinical genetics
- Developmental pediatrics
- Audiology
Background:
- Miller postaxial acrofacial dysostosis syndrome is a rare genetic disorder.
- Early intervention is crucial for managing developmental challenges associated with rare syndromes.
Observation:
- A longitudinal case study tracked a boy with Miller postaxial acrofacial dysostosis syndrome from ages 1 to 7.
- The patient presented with psychomotor retardation and bilateral hearing loss (50-70 dB).
Findings:
- Significant improvements in intellectual and social functioning were observed after the introduction of hearing aids.
- The patient's facial features progressively changed, exhibiting asymmetry, a triangular shape, ectropion, and fine lips.
Implications:
- Hearing aid intervention can positively impact cognitive and social development in children with specific genetic syndromes.
- Understanding the phenotypic evolution in Miller postaxial acrofacial dysostosis syndrome is vital for comprehensive patient care and management.