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Thanatophoric dysplasia and cloverleaf skull
L O Langer1, S S Yang, J G Hall
1Department of Radiology, University of Minnesota, Minneapolis.
American Journal of Medical Genetics. Supplement
|January 1, 1987
Summary
This study differentiates two types of thanatophoric dysplasia (TD). Type 2 TD, characterized by straight femora and taller vertebrae, is strongly associated with severe cloverleaf skull (CS) malformation.
Area of Science:
- Medical Genetics
- Pediatric Orthopedics
- Skeletal Dysplasias
Background:
- Thanatophoric dysplasia (TD) is a severe skeletal disorder.
- Cloverleaf skull (CS) is a rare cranial anomaly sometimes associated with TD.
- Distinguishing subtypes of TD is crucial for understanding prognosis and management.
Observation:
- Nine infants with TD and CS were analyzed.
- Twenty-two published cases of TD with CS (CSTD) were reviewed.
- CSTD cases were compared to TD cases without CS.
Findings:
- Two distinct types of TD were identified: Type 1 (curved femora, flat vertebrae) and Type 2 (straight femora, taller vertebrae).
- Subtle histopathological differences exist between Type 1 and Type 2 TD.
- Severe CS is almost exclusively observed in Type 2 TD, while Type 1 TD rarely presents with mild CS.
Implications:
- This classification refines the understanding of TD subtypes.
- The association between Type 2 TD and severe CS aids in diagnosis and predicting severity.
- Further research into the genetic and molecular underpinnings of these TD types is warranted.