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

作者：Koc A; Bahce M; S**** H T; Uludag A; Kozan S; Torun D; Ustunsoz B; Guran S^*

来源：Genetic Counseling, 2011, 22(2): 129-134.

• Generalized platyspondyly
• Large mandible
• Hypoplastic teeth
• Hyperopia
• Low cholesterol levels

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.

• 出版日期2011
• 单位中国人民解放军军事医学科学院