How to Cite this Article: Kayserili H, Altunoglu U, Ozgur H, Basaran S, Uyguner ZO. 2012. Mild nasal malformations and parietal foramina caused by Homozygous ALX4 mutations. Am J Med Genet Part A 158A:236–244.
Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations†
Article first published online: 2 DEC 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 1, pages 236–244, January 2012
How to Cite
Kayserili, H., Altunoglu, U., Ozgur, H., Basaran, S. and Uyguner, Z.O. (2012), Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations. Am. J. Med. Genet., 158A: 236–244. doi: 10.1002/ajmg.a.34390
- Issue published online: 19 DEC 2011
- Article first published online: 2 DEC 2011
- Manuscript Accepted: 24 OCT 2011
- Manuscript Received: 22 JUN 2011
- Scientific and Technological Research Council of Turkey (TÜBİTAK). Grant Number: 108S418
- frontonasal dysplasia;
- craniofrontonasal dysplasia;
- parietal foramina;
- bifid nose;
- ALX genes
We report on a boy born to consanguineous parents, who had hypertelorism, a broad nasal bridge, ridge and tip, bifid nasal tip, cleft alae nasi, broad columella, unilateral preauricular tag, shallow labiogingival sulcus, and bilateral large parietal foramina. Cranial MRI revealed a kinked corpus body and small cerebellar vermis. Molecular analysis uncovered a homozygous c.673C > G (p.Q225E) mutation in ALX4 gene. We compare the relatively mild phenotype in the patient to the more marked phenotype described in other patients with homozygous ALX4 mutations, and to the phenotypes in patients with mutations in other ALX genes. © 2011 Wiley Periodicals, Inc.