Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations.
| Autor: | Kayserili H; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey. hkayseri@istanbul.edu.tr, Altunoglu U, Ozgur H, Basaran S, Uyguner ZO |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | American journal of medical genetics. Part A [Am J Med Genet A] 2012 Jan; Vol. 158A (1), pp. 236-44. Date of Electronic Publication: 2011 Dec 02. |
| DOI: | 10.1002/ajmg.a.34390 |
| Abstrakt: | 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. (Copyright © 2011 Wiley Periodicals, Inc.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|
Plný text