Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser-Winter syndrome

Eker H. K., Derinkuyu B. E., Unal S., Masliah-Planchon J., Drunat S., Verloes A.

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.57, sa.1, ss.32-36, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 57 Sayı: 1
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.ejmg.2013.10.005
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.32-36
  • Anahtar Kelimeler: Cerebro-fronto-facial syndrome, Baraitser-Winter syndrome, ACTB, Polymicrogyria, APPARENTLY UNDESCRIBED SYNDROME, CNS STRUCTURAL ANOMALIES, MENTAL-RETARDATION, GYRAL MALFORMATIONS, EYELID COLOBOMAS, SHALLOW ORBITS, EAR ANOMALIES, PTOSIS, MACROBLEPHARON, MACROSTOMIA
  • Gazi Üniversitesi Adresli: Evet

Özet

Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. (C) 2013 Elsevier Masson SAS. All rights reserved.