title: Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome?
abstract: A family with midline nasal dermoids in four members over five generations is described. Two of these individuals also had a midline cleft lip. The pattern of inheritance appears to be autosomal dominant with variable expression. To our knowledge, no familial cases of midline clefting with nasal dermoids have previously been reported in the literature. Cranial imaging to look for intracerebral extension of the dermoid is recommended in such cases.
authors.affiliation: North Thames Regional Genetics Service, Great Ormond Street Hospital South West Thames Regional Genetics Centre, St Georges Hospital, London North Thames Cleft Centre, Great Ormond Street Hospital and St Andrews Centre, Broomfield, UK.
authors.forename: Melissa M
authors.initials: MM
authors.lastname: Lees
authors.forename: Fiona
authors.initials: F
authors.lastname: Connelly
authors.forename: Loshan
authors.initials: L
authors.lastname: Kangesu
authors.forename: Brian
authors.initials: B
authors.lastname: Sommerlad
authors.forename: Angela
authors.initials: A
authors.lastname: Barnicoat
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002971:Cleft Lip / Q000473:pathology*; D003884:Dermoid Cyst / Q000473:pathology*; D004814:Epidermal Cyst / Q000473:pathology; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009669:Nose Neoplasms / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome