A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, and low serum cholesterol levels is presented. Some of the patient's features resemble brachyolmia, Spondylo-epiphyseal dysplasia tarda, Kenny-Caffey and Stickler syndromes. Based on literature review, possible diagnoses are discussed. In conclusion, this patient can have a variant of brachyolmia or Spondylo-epiphyseal dysplasia tarda. However, we cannot exclude that this constellation of clinical features may represent a new syndrome.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
generalized platyspondyly
8
platyspondyly large
8
large mandible
8
mandible hypoplastic
8
hypoplastic teeth
8
teeth strabismus
8
cholesterol levels
8
brachyolmia spondylo-epiphyseal
8
spondylo-epiphyseal dysplasia
8
dysplasia tarda
8
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!