Trigonocephaly and Wilson's disease in two siblings.
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.
Cogulu
Ozgur
O
Department of Pediatrics Department of Medical Biology, Ege University, Faculty of Medicine, Izmir, Turkey Athens University, St. Sophia's Children's Hospital, Department of Medical Genetics, Athens, Greece.
Onay
Huseyin
H
Ozgenc
Funda
F
Karaca
Emin
E
Gunduz
Cumhur
C
Tzetis
Maria
M
Cankaya
Tufan
T
Kanavakis
Emmanuel
E
Ozkinay
Ferda
F
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000251:Adenosine Triphosphatases / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D000073840:Copper-Transporting ATPases; D003398:Craniosynostoses / Q000473:pathology*; D004252:DNA Mutational Analysis; D005260:Female; D006527:Hepatolenticular Degeneration / Q000473:pathology*; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D035781:Siblings; D013577:Syndrome
D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases