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Trichorhinophalangeal syndrome type III
Dermatology (Basel, Switzerland)
|January 1, 1996
Summary
Trichorhinophalangeal syndrome (TRPS) type III is an autosomal dominant disorder. This report details a Turkish family with TRPS III, highlighting key clinical features like growth retardation and distinctive facial and limb abnormalities.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder.
- TRPS type III is a distinct subtype characterized by specific clinical manifestations.
- Understanding TRPS III is crucial for accurate diagnosis and management.
Observation:
- A Turkish family with seven affected members presented with TRPS III.
- The proband exhibited severe growth retardation (147 cm), craniofacial dysmorphia (thin/prominent lips, pear-shaped nose), and brachydactyly.
- Sparse scalp hair and cone-shaped epiphyses were noted.
Findings:
- This study provides a detailed clinical description of TRPS III in a multigenerational family.
- Novel scanning electron microscopy and energy-dispersive X-ray microanalysis data are presented for TRPS III.
- Autosomal dominant inheritance pattern was confirmed within the family.
Implications:
- This research aids in the precise diagnosis and genetic counseling for TRPS III.
- Further research into the molecular mechanisms of TRPS III is warranted.
- The findings contribute to the delineation of rare genetic syndromes affecting growth and development.