Literature DB >> 17963218

Two siblings with an unusual nasal malformation: further instances of craniorhiny?

Melissa M Lees1, Loshan Kangesu, Per Hall, Raoul C M Hennekam.   

Abstract

We report a brother and sister born to consanguineous parents. The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum. One sibling also has a midline cleft lip and the other has narrowing of the posterior choanae. We suggest that they have craniorhiny, despite the absence of an abnormal skull shape. The differential diagnosis is discussed. (c) 2007 Wiley-Liss, Inc.

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Year:  2007        PMID： 17963218     DOI： 10.1002/ajmg.a.32026

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  2 in total

1.  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

2.  Frontonasal dysplasia: A case report.

Authors:  Se Il Lee; Seung Je Lee; Hong Sil Joo
Journal:  Arch Craniofac Surg       Date:  2019-12-20
  2 in total

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