Two siblings with an unusual nasal malformation: further instances of craniorhiny?
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.
Lees
Melissa M
MM
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK. mlees@ich.ucl.ac.uk
Kangesu
Loshan
L
Hall
Per
P
Hennekam
Raoul C M
RC
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