title: 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.affiliation: Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK. mlees@ich.ucl.ac.uk
authors.forename: Melissa M
authors.initials: MM
authors.lastname: Lees
authors.forename: Loshan
authors.initials: L
authors.lastname: Kangesu
authors.forename: Per
authors.initials: P
authors.lastname: Hall
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000150:complications; D000013:Congenital Abnormalities / Q000175:diagnosis*; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D019066:Facies; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis; D008297:Male; D009666:Nose / Q000002:abnormalities*; D035781:Siblings