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Updated: May 30, 2026

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low
1Dept. of Medical Genetics, Gulhane Military Academy, Etlik, Ankara, Turkey.
Abstract:
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.
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