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, ss.129-134, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 22 Konu: 2
  • Basım Tarihi: 2011
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.129-134

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.