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Thanatophoric dysplasia with cloverleaf skull
American Journal of Diseases of Children (1960)
|September 1, 1983
Summary
Thanatophoric dysplasia with cloverleaf skull is a rare skeletal disorder causing severe limb shortening and hydrocephalus. This case highlights associated cardiac anomalies, contributing to the understanding of this uniformly fatal condition.
Area of Science:
- Medical Genetics
- Pediatric Cardiology
- Skeletal Dysplasias
Background:
- Thanatophoric dysplasia (TD) is a severe skeletal dysplasia.
- Cloverleaf skull is a characteristic feature of some TD cases.
- This condition is typically lethal due to respiratory insufficiency.
Observation:
- A neonate presented with features of thanatophoric dysplasia and cloverleaf skull.
- The patient exhibited significant hydrocephalus.
- Associated cardiac anomalies were identified during clinical evaluation.
Findings:
- The case confirmed the association of cardiac anomalies with thanatophoric dysplasia and cloverleaf skull.
- A review of existing literature was conducted to correlate findings.
- This emphasizes the complex phenotype of this rare congenital anomaly.
Implications:
- Understanding the spectrum of anomalies in TD is crucial for diagnosis and management.
- Further research into the genetic and developmental pathways is warranted.
- This case contributes to the limited data on TD-associated cardiac malformations.