title: The oculo-auriculo-fronto-nasal syndrome (OAFNS) - description of a rare and complex craniofacial deformity and its interdisciplinary management before school age.
abstract: Craniofacial clefts are certainly among the most challenging congenital malformations with respect to functional, aesthetic and psychosocial consequences. The aetiology is still under discussion, recent molecular genetic findings suggest defects in the ciliary function of neural crest cells during facial development. The severity of craniofacial clefting is known to be extremely variable. Different classifications have been proposed however nomenclature is not uniform. If vertical, median craniofacial clefting of fronto-naso-maxillary structures is accompanied by auriculo-mandibular malformations the term oculo-auriculo-fronto-nasal syndrome (OAFNS) has been proposed. Extreme craniofacial abnormalities have to be expected in this rare disorder. Adequate correction is a surgical challenge and interventions have to be adapted individually to patient's needs with respect to general condition, age and growth. This case report describes both the underlying pathology as well as the interdisciplinary management of a female patient from birth to 6 years of age affected by this rare combination of vertical craniofacial clefting and bilateral auriculo-mandibular dysplasia.
authors.affiliation: Department of Oral and Maxillofacial Surgery, Clinical Navigation, University Hospital Charité, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany. nicolai.adolphs@charite.de
authors.forename: Nicolai
authors.initials: N
authors.lastname: Adolphs
authors.forename: Eric
authors.initials: E
authors.lastname: Arnaud
authors.forename: Ernst-Johannes
authors.initials: EJ
authors.lastname: Haberl
authors.forename: Luitgard
authors.initials: L
authors.lastname: Graul-Neumann
authors.forename: Gül
authors.initials: G
authors.lastname: Schmidt
authors.forename: Horst
authors.initials: H
authors.lastname: Menneking
authors.forename: Bodo
authors.initials: B
authors.lastname: Hoffmeister
mesh_terms: D002971:Cleft Lip / Q000601:surgery; D002972:Cleft Palate / Q000601:surgery; D019465:Craniofacial Abnormalities / Q000601:surgery*; D004431:Ear, External / Q000002:abnormalities / Q000601:surgery; D005124:Eye Abnormalities / Q000601:surgery*; D005147:Facial Bones / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006972:Hypertelorism / Q000601:surgery; D007231:Infant, Newborn; D010347:Patient Care Planning; D010348:Patient Care Team; D019651:Plastic Surgery Procedures / Q000379:methods*; D015619:Respiratory System Abnormalities / Q000601:surgery*; D012886:Skull / Q000601:surgery; D013131:Spine / Q000002:abnormalities / Q000601:surgery; D013904:Thoracic Vertebrae / Q000601:surgery