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Bilateral coronoid process hyperplasia and short stature. A case report
1Department of Oral and Maxillofacial Surgery, Faculty of Medicine, Mie University, Japan.
Summary
This case study presents a 23-year-old man with bilateral coronoid process hyperplasia and short stature, key features of trismus-pseudocampylodactyly syndrome. Notably, the patient lacked the typical pseudocampylodactyly and family history associated with this rare genetic disorder.
Area of Science:
- Medical genetics
- Orthopedics
- Rare diseases
Background:
- Trismus-pseudocampylodactyly syndrome is a rare genetic disorder.
- Characteristic features include coronoid process hyperplasia, short stature, and pseudocampylodactyly.
- Genetic heterogeneity and variable expressivity can complicate diagnosis.