Frontonasal dysplasia

Definition:

Frontonasal dysplasia is a rare developmental field defect with separation or clefting of the central portion of the face. Its basic characteristics include hypertelorism, a broad nose, or complete midline splitting of the nose.

References:

[1]. Elif Uz, et al. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet. 2010 May 14;86(5):789-96. [Content Brief]

[2]. Hulya Kayserili, et al. ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet. 2009 Nov 15;18(22):4357-66. [Content Brief]

[3]. Karam A Allam, et al. The spectrum of median craniofacial dysplasia. Plast Reconstr Surg. 2011 Feb;127(2):812-821. [Content Brief]

[4]. Samantha A Brugmann, et al. Craniofacial ciliopathies: A new classification for craniofacial disorders. Am J Med Genet A. 2010 Dec;152A(12):2995-3006. [Content Brief]

[5]. Stephen R F Twigg, et al. Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet. 2009 May;84(5):698-705. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.