A case with spondylo-metaphyseal dysplasia type A4


Percin E., Tukenmez M., Percin S.

GENETIC COUNSELING, cilt.15, ss.363-369, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 15 Konu: 3
  • Basım Tarihi: 2004
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.363-369

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.