IDENTICAL-TWINS WITH AN AUTOSOMAL RECESSIVE FORM OF SPONDYLOCOSTAL DYSOSTOSIS

SATAR M., KOZANOGLU M. E., ATILLA E.

CLINICAL GENETICS, cilt.41, sa.6, ss.290-292, 1992 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 41 Sayı: 6
  • Basım Tarihi: 1992
  • Doi Numarası: 10.1111/j.1399-0004.1992.tb03399.x
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.290-292
  • Çukurova Üniversitesi Adresli: Evet

Özet

A form of spondylocostal dysostosis, marked by multiple vertebral clefts, costal bifurcation, and fusion was observed in identical male twins whose parents were first cousins. The lack of previous anomalies in the family, the high degree of parental inbreeding and the absence of deformities in a 3-year-old brother indicated an autosomal recessive mode of inheritance.