Report of a family with craniofrontonasal syndrome

Ozyilmaz B., Gezdirici A., ÖZEN M., Kalenderer O.

CLINICAL DYSMORPHOLOGY, cilt.24, sa.2, ss.79-83, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1097/mcd.0000000000000067
  • Dergi Adı: CLINICAL DYSMORPHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.79-83
  • Anahtar Kelimeler: cellular interference, craniofrontonasal syndrome, craniosynostosis, EFNB1, genotype phenotype, hemizygous, X-linked dominant, EFNB1 MUTATIONS, EPHRIN-B1, PATIENT, MALES, XP22, GENE, MAPS
  • Kocaeli Üniversitesi Adresli: Hayır

Özet

Craniofrontonasal syndrome (CFNS, OMIM 304110) paradoxically presents a severe phenotype in heterozygous females and a mild or a normal phenotype in hemizygous males. Hypertelorism is seen in almost all of the female CFNS patients; craniosynostosis, facial asymmetry, and bifid nose are the other major clinical features. Most of the males are mildly affected, frequently only with hypertelorism. Here, we report a family with a G151S mutation in the EFNB1 gene. The mutation was identified in two severely affected sisters and paradoxically in their clinically unaffected father. The father on whom we report is the first male patient genetically proved to carry a CFNS-causing mutation and not presenting any signs nor symptoms of CFNS. Copyright (C) 2015 Wolters Kluwer Health, Inc. All rights reserved.