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., ...Daha Fazla

GENETIC COUNSELING, cilt.22, sa.2, ss.129-134, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 2
  • Basım Tarihi: 2011
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.129-134
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Evet

Özet

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.