New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels
Genetic Counseling, cilt.22, sa.2, ss.129-134, 2011 (SCI-Expanded, Scopus)
- 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
- Anahtar Kelimeler: Generalized platyspondyly, Large mandible, Hypoplastic teeth, Hyperopia, Low cholesterol levels
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.