Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 158A, Issue 1, Pages 236-244Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.34390
Keywords
ALX4; frontonasal dysplasia; craniofrontonasal dysplasia; craniorhiny; frontorhiny; parietal foramina; bifid nose; ALX genes
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Funding
- Scientific and Technological Research Council of Turkey (TUBITAK) [108S418]
- European Reserach Area Network (E-RARE) [R07197KS]
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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. (C) 2011 Wiley Periodicals, Inc.
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