New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels |
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Authors: | Koç A Bahce M Sanal H T Uludag A Kozan S Torun D Ustunsoz B Guran S |
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Institution: | Dept. of Medical Genetics, Gulhane Military Academy, Etlik, Ankara, Turkey. |
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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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