FRYNS SYNDROME WITH ATYPICAL FINDINGS - WITH LARGE MIDLINE CLEFT ON FOREHEAD BUT NORMAL CRANIAL MRI FINDINGS

Demirel G., Oguz S. S., Celik I. H., Yilmaz Y., Uras N., Erdeve Ö., ...Daha Fazla

GENETIC COUNSELING, cilt.21, sa.4, ss.405-409, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 4
  • Basım Tarihi: 2010
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.405-409
  • Anahtar Kelimeler: Cleft on forehead, Diaphragmatic hernia, Fryns syndrome, DIAPHRAGMATIC-HERNIA
  • Ankara Üniversitesi Adresli: Evet

Özet

Fryns syndrome with atypical findings - with large midline cleft on forehead but normal cranial MRI findings: We report a newborn with Fryns syndrome and atypical findings like a large midline cleft on forehead. Abnormal findings included congenital left diaphragmatic hernia, prominent forehead, hypertelorism, broad nasal bridge, anteverted nostrils, dell palate, low set ears, tapered fingers, macrocephaly, congenital heart defect, midline defects and renal anomalies. This is the first case that has a midline cleft on forehead with normal cranial MRI findings.