A case with spondylo-metaphyseal dysplasia type A4

Percin E., Tukenmez M., Percin S.

GENETIC COUNSELING, cilt.15, sa.3, ss.363-369, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 3
  • Basım Tarihi: 2004
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.363-369
  • Gazi Üniversitesi Adresli: Hayır

Özet

A case with spondylo-metaphyseal dysplasia type A4: We present a case with spondylo-metaphyseal dysplasia type A4 characterized by ovoid vertebral bodies with anterior tongue-like deformities, widened irregular and sclerotic metaphyseal changes, short iliac wings, slightly short long bones and short tubular bones of the hands with irregular metaphyses. She also had bipartite trochlea and irregular patellar margins, which have not been described in spondylo-metaphyseal dysplasia types to date.