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Oto-palato-digital syndrome type II
1Institut de puériculture, Centre hospitalier et Universitaire, Strasbourg, France.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1994
Summary
This study details a rare sporadic case of oto-palato-digital (OPD) syndrome type II in a 26-year-old patient. The individual presented with unique physical and radiological anomalies, alongside a significant IQ improvement.
Area of Science:
- Medical Genetics
- Clinical Dysmorphology
- Radiology
Background:
- Oto-palato-digital (OPD) syndrome is a rare genetic disorder.
- OPD syndrome type II is characterized by specific craniofacial, skeletal, and auditory abnormalities.
- Sporadic cases, without a family history, are less common and present unique diagnostic challenges.