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Phenotype of cranioectodermal dysplasia with different hair and bone abnormalities
E J Lammer1, H Baden, R J Margolis
1Embryology-Teratology Unit, Massachusetts General Hospital, Boston.
American Journal of Medical Genetics
|January 1, 1993
Summary
A new ectodermal dysplasia syndrome is described in a young boy with sparse hair and bone dysplasia. This condition, distinct from similar syndromes, involves hair follicle and shaft abnormalities.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Ectodermal dysplasias are a group of genetic disorders affecting hair, nails, teeth, and skin.
- Some ectodermal dysplasias present with skeletal abnormalities, but distinct presentations require further classification.