Experience of a skeletal dysplasia registry in Turkey: A five-years retrospective analysis

Kurt-Sukur E. D., Simsek-Kiper P. O., ÜTİNE G. E., Boduroglu K., Alanay Y.

American Journal of Medical Genetics, Part A, cilt.167, sa.9, ss.2065-2074, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 167 Sayı: 9
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1002/ajmg.a.37122
  • Dergi Adı: American Journal of Medical Genetics, Part A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2065-2074
  • Anahtar Kelimeler: skeletal dysplasia, osteochondrodysplasia, dysostoses, autosomal recessive inheritance, consanguinity, BIRTH PREVALENCE RATES, RADIOGRAPHIC DELINEATION, CONSANGUINEOUS MARRIAGES, CEREBRAL CALCIFICATIONS, MUTATIONS, SPONDYLOENCHONDRODYSPLASIA, OSTEOCHONDRODYSPLASIAS, IDENTIFICATION, DISORDERS, INFANT
  • Hacettepe Üniversitesi Adresli: Evet

Özet

This study shares data on 417 patients with genetic disorders of skeleton including 10 fetal autopsies encountered in a 5-year period at a tertiary university hospital in Ankara, Turkey. We included patients with osteochondrodysplasias, excluding over-growth syndromes, dysostoses, and craniofacial syndromes. When grouped according to the "International Skeletal Dysplasia Society 2010 classification" the most frequent group is "FGFR3 group" (achondroplasia). "Decreased bone density group" takes the second place, consistent with the literature. We also demonstrated, a relatively higher frequency of recessively inherited skeletal dysplasias when the diagnosis is an entity other than achondroplasia or osteogenesis imperfecta. The literature on the incidence of genetic disorders of skeleton from the Middle East and Eastern Mediterranean is limited to fetal and neonatal autopsies or birth prevelance reports. The higher rate of consanguineous marriages which increases the frequency of autosomal recessive entities makes it difficult to apply data from other parts of the world. Total consanguinity rate among parents in our study was 53% and there were regional differences. The highest (79%) was among parents from Southeast Anatolia. This study is the first broad retrospective analysis of genetic disorders of skeleton from our region. We aim to provide a descriptive source for future studies and discuss our findings in comparison to reports from other parts of the world. (C) 2015 Wiley Periodicals, Inc.