Literature DB >> 2840620

Frontonasal malformation as a field defect and in syndromic associations.

H O Sedano1, R J Gorlin.   

Abstract

Several new "syndromes" have been described that have in common facial findings identical or similar to those seen in frontonasal malformation (FNM), previously termed frontonasal dysplasia. Some of those new syndromes are inherited, whereas FNM is an isolated finding. Thus there is a need for differentiation among those conditions. A review of the literature was undertaken to identify and classify the various reports that describe FNM as it occurs alone and in association with a syndrome.

Entities:  

Mesh:

Year:  1988        PMID: 2840620     DOI: 10.1016/0030-4220(88)90014-x

Source DB:  PubMed          Journal:  Oral Surg Oral Med Oral Pathol        ISSN: 0030-4220


  12 in total

1.  Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

Authors:  Elif Uz; Yasemin Alanay; Dilek Aktas; Ibrahim Vargel; Safak Gucer; Gokhan Tuncbilek; Ferdinand von Eggeling; Engin Yilmaz; Ozgur Deren; Nicole Posorski; Hilal Ozdag; Thomas Liehr; Sevim Balci; Mehmet Alikasifoglu; Bernd Wollnik; Nurten A Akarsu
Journal:  Am J Hum Genet       Date:  2010-05-06       Impact factor: 11.025

2.  Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats.

Authors:  Leslie A Lyons; Carolyn A Erdman; Robert A Grahn; Michael J Hamilton; Michael J Carter; Christopher R Helps; Hasan Alhaddad; Barbara Gandolfi
Journal:  Dev Biol       Date:  2015-12-02       Impact factor: 3.582

Review 3.  Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Authors:  Peter G Farlie; Naomi L Baker; Patrick Yap; Tiong Y Tan
Journal:  Mol Syndromol       Date:  2016-10-29

4.  Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development.

Authors:  M Berk; S Y Desai; H C Heyman; C Colmenares
Journal:  Genes Dev       Date:  1997-08-15       Impact factor: 11.361

5.  Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child.

Authors:  R A Valério; C Scatena; F R R Santos; F L Romano; A M Queiroz; F W G Paula-Silva
Journal:  Eur Arch Paediatr Dent       Date:  2017-03-01

6.  Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.

Authors:  Asmat Ullah; Muhammad Umair; Umm E-Kalsoom; Shaheen Shahzad; Sulman Basit; Wasim Ahmad
Journal:  J Hum Genet       Date:  2017-11-16       Impact factor: 3.172

7.  Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Authors:  Stephen R F Twigg; Sarah L Versnel; Gudrun Nürnberg; Melissa M Lees; Meenakshi Bhat; Peter Hammond; Raoul C M Hennekam; A Jeannette M Hoogeboom; Jane A Hurst; David Johnson; Alexis A Robinson; Peter J Scambler; Dianne Gerrelli; Peter Nürnberg; Irene M J Mathijssen; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2009-04-30       Impact factor: 11.025

8.  Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1.

Authors:  Tamer Mansour; Sainan Wei; Michael Netzloff; Tarek Mohamed; Brian Schutte; Said A Omar
Journal:  AJP Rep       Date:  2015-05-15

9.  Congenital basal meningoceles with different outcomes: a case series.

Authors:  Satomi Okano; Ryosuke Tanaka; Akie Okayama; Etsushi Tsuchida; Fumikatsu Nohara; Nao Suzuki; Toshio Okamoto; Ken Nagaya; Satoru Takahashi; Hiroshi Azuma
Journal:  J Med Case Rep       Date:  2017-12-27

10.  Hydroxyapatite implantation for the repair of a congenital nasal anomaly: 10 years follow-up.

Authors:  Shigeyuki Kanazawa; Koichiro Kiya; Tateki Kubo; Ko Hosokawa
Journal:  J Surg Case Rep       Date:  2018-06-26
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