Kniest dysplasia - head

Case contributed by Dr MohammadTaghi Niknejad

Presentation

4 mo female with short-trunked dwarfism

Patient Data

Age: 4 months
Gender: Female
CT

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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Case information

rID: 20887
Case created: 18th Dec 2012
Last edited: 7th Feb 2016
System: Head & Neck
Inclusion in quiz mode: Included

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