FA-C Mutation in Children with Severe Ear Anomalies and The Early Onset of Bone Marrow Failure: Case Report

Ozdemir Z. C., Turhan A. B., BÖR Ö., Sivrikaya C.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, cilt.17, sa.1, ss.183-188, 2019 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 17 Sayı: 1
  • Basım Tarihi: 2019
  • Dergi Adı: GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.183-188
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

A thirty-three months old girl presented with palor and fatigue. On clininal examination she had microcephaly, auricular dysplasia, growth retardation, dysmorphic apperance, and skelatal deformities. Laboratory investigation revealed thrombocytopenia and anemia. Mitomycin induced chromosome breakage was detected showing chromosomal instability. FA-C mutation was identified by gene sequencing analysis. Fanconi anemia (FA) was diagnosed with clinical and laboratory findings. FA-A is the most prevalent complementation group. The FA-C complementation group is observed rarely. In this article, we aimed at reporting the phenotypical features of a pediatric patient with FA-C mutation which is relatively rare.