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Thanatophoric dysplasia: a rare entity.
Oman Medical Journal
|November 2, 2011
Summary
Thanatophoric dysplasia is a lethal skeletal disorder causing severe limb shortening and distinctive facial features. This case report details its anatomical characteristics and clinical presentation.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Prenatal Diagnosis
Background:
- Thanatophoric dysplasia (TD) is a severe, lethal skeletal disorder.
- It is characterized by extreme micromelia (short limbs) and skeletal malformations.
Observation:
- The case presented with a short neck, narrow thorax, and protuberant abdomen.
- Facial features included a large head with frontal bossing, prominent eyes, hypertelorism, and a depressed nasal bridge.
Findings:
- Diagnosis of thanatophoric dysplasia is typically achieved via second-trimester ultrasonography.
- This report emphasizes the detailed anatomical features, abnormalities, and clinical profile of a rare TD case.
Implications:
- Understanding TD's features aids in accurate prenatal diagnosis and genetic counseling.
- This case contributes to the literature on rare skeletal dysplasias and their management.
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