Presentation
4 mo female with short-trunked dwarfism
Patient Data
Age: 4 months
Gender: Female
From the case:
Kniest dysplasia - head
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Large globes, hypoplastic nasal bones and cavity and cleft palate are seen.
Case Discussion
Megalophthalmos, cleft plate and midfacial hypoplasia in a 4 months old female with short-trunk dwarfism, consistent with Kniest dysplasia (a rare type of skeletal dysplasia).
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