Trigonocephaly and Wilson's disease in two siblings


COGULU O. , ONAY H. , OZGENC F., KARACA E., GUNDUZ C. , TZETIS M., ...Daha Fazla

CLINICAL DYSMORPHOLOGY, cilt.14, ss.161-164, 2005 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 14 Konu: 3
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1097/00019605-200507000-00013
  • Dergi Adı: CLINICAL DYSMORPHOLOGY
  • Sayfa Sayıları: ss.161-164

Özet

Trigonocephaly and Wilson's disease (WD) are two different entities. The former is a type of craniosynostosis that occurs because of fusion of the metopic suture and the latter, also called hepatolenticular degeneration, is caused by an accumulation of copper in tissues all over the body because of failure of copper excretion. No single gene has been identified for trigonocephaly whereas the ATP7B gene has been shown to be responsible for Wilson's disease. Here we present two siblings born to non-consanguineous parents who both presented with trigonocephaly, Wilson's disease and facial dysmorphism. In addition, the female has renal agenesis and the male has a history of undescended testis. Karyotypes were normal and no mutation of the ATP7B gene has been identified in the patients or their parents.