Trigonocephaly and Wilson's disease in two siblings.

Abstract:

: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 nonconsanguineous 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.

journal_name

Clin Dysmorphol

journal_title

Clinical dysmorphology

authors

Cogulu O,Onay H,Ozgenc F,Karaca E,Gunduz C,Tzetis M,Cankaya T,Kanavakis E,Ozkinay F

doi

10.1097/00019605-200507000-00013

subject

Has Abstract

pub_date

2005-07-01 00:00:00

pages

161-4

issue

3

eissn

0962-8827

issn

1473-5717

pii

00019605-200507000-00013

journal_volume

14

pub_type

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