title: Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity?
abstract: We report a boy with prominent, peculiarly malformed ears, abnormality of the ramus of the mandible and hypotonia. An isolated peculiar bilateral ear deformity named 'question mark ear' has been delineated in plastic reconstruction surgery reviews [Cosman et al., 1970 Plast Reconstr Surg 46:454-457; Cosman (1984) Plast Reconstr Surg 73:572-576; Takato et al. (1989) Ann Plast Surg 22:69-73; Brodovsky (1997) Plast Reconstr Surg 100:1254-1257; Park (1998) Plast Reconstr Surg 101:1620-1623; Al-Quattan (1998) Plast Reconstr Surg 102:439-441] and a similar deformity of the ear and changes in the temporo-mandibular joint and condyle has been described by Jampol et al. [(1998) Am J Med Genet 75:449-452] and by Guion-Almeida et al. [(1999) Am J Med Genet 86:130-133]. The present case may be the third description of this malformation complex with additional clinical features characterized by hypotonia and mild developmental delay, or possibly a new distinct entity.
authors.affiliation: Services of Medical Genetics, Laboratory of Medical Genetics, G Gaslini Institute, Genova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Priolo
authors.forename: M
authors.initials: M
authors.lastname: Lerone
authors.forename: L
authors.initials: L
authors.lastname: Rosaia
authors.forename: E P
authors.initials: EP
authors.lastname: Calcagno
authors.forename: A K
authors.initials: AK
authors.lastname: Sadeghi
authors.forename: F
authors.initials: F
authors.lastname: Ghezzi
authors.forename: R
authors.initials: R
authors.lastname: Ravazzolo
authors.forename: M
authors.initials: M
authors.lastname: Silengo
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital*; D011859:Radiography; D013577:Syndrome; D013704:Temporomandibular Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging