NEW PHENOTYPE WITH GENERALIZED PLATYSPONDYLY, LARGE MANDIBLE, HYPOPLASTIC TEETH, STRABISMUS, HYPEROPIA AND LOW CHOLESTEROL LEVELS

Koc A., Bahce M., Sanal H. T., Uludag A., Kozan S., Torun D., ...More

GENETIC COUNSELING, vol.22, no.2, pp.129-134, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 2
  • Publication Date: 2011
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.129-134
  • Keywords: Generalized platyspondyly, Large mandible, Hypoplastic teeth, Hyperopia, Low cholesterol levels, BRACHYOLMIA, DYSPLASIA
  • Dokuz Eylül University Affiliated: No

Abstract

New phenotype with generalized platyspondyly large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels: 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.