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 Dysmorpholjournal_title
Clinical dysmorphologyauthors
Cogulu O,Onay H,Ozgenc F,Karaca E,Gunduz C,Tzetis M,Cankaya T,Kanavakis E,Ozkinay Fdoi
10.1097/00019605-200507000-00013subject
Has Abstractpub_date
2005-07-01 00:00:00pages
161-4issue
3eissn
0962-8827issn
1473-5717pii
00019605-200507000-00013journal_volume
14pub_type
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