title: Craniovertebral malformations in hemifacial microsomia.
abstract: There is increasing evidence that hemifacial microsomia (HFM), Goldenhar syndrome (GS), and oculoauriculovertebral dysplasia (OAV) are part of a spectrum within a single entity. In support of this thesis are the family studies that have suggested that isolated microtia (M) may represent the mildest form of the condition [Kaye et al, 1979; Rollnick and Kaye, 1983]. Vertebral malformations are pathognomonic of OAV, but they have also been described in HFM and GS. In this investigation we studied the frequency and type of cervical spine malformations in HFM, GS, OAV, and M. Our findings show that the frequency of cervical spine malformations in HFM and M was greater than values for a normal population. This further supports the probable association between HFM, GS, OAV, and M. Fusions were the most prevalent cervical spine malformation encountered. The study also included analysis of the cranial base and craniovertebral junction.
mesh_terms: D000293:Adolescent; D002508:Cephalometry; D002574:Cervical Vertebrae / Q000002:abnormalities / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities*; D005146:Facial Asymmetry / Q000000981:diagnostic imaging*; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome