Seckel Syndrome Accompanied by Semilobar Holoprosencephaly and Arthrogryposis

Sarıcı D., Akın M. A., Kara A., Doğanay S., Kurtoglu S.

PEDIATRIC NEUROLOGY, cilt.46, sa.3, ss.189-191, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 46 Sayı: 3
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1016/j.pediatrneurol.2012.01.002
  • Dergi Adı: PEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.189-191
  • Erciyes Üniversitesi Adresli: Evet

Özet

Seckel syndrome is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, microcephaly, and "bird-like" face with prominent, beak-like nose and micrognathia. Additional abnormalities were described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. We present the magnetic resonance imaging findings of a neonate with Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. Major brain malformations may be associated with Seckel syndrome. Imaging studies should be performed to determine any central nervous system abnormalities. Considering the basic defect of neuroblast proliferation in Seckel syndrome, neuronal migration disorders should be sought in these patients. (C) 2012 Elsevier Inc. All rights reserved.