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

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.

• Authors: Melissa M Lees, Loshan Kangesu, Per Hall, Raoul C M Hennekam
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 143A Issue 24 Pg. 3290-4 (Dec 15 2007) ISSN: 1552-4833 [Electronic] United States
• PMID: 17963218 (Publication Type: Case Reports, Journal Article)
• Copyright: (c) 2007 Wiley-Liss, Inc.

Topics

• Child
• Child, Preschool
• Cleft Lip (complications)
• Congenital Abnormalities (diagnosis)
• Craniosynostoses (diagnosis, genetics)
• Diagnosis, Differential
• Facies
• Family Health
• Female
• Genes, Recessive
• Humans
• Hypertelorism (diagnosis)
• Male
• Nose (abnormalities)
• Siblings