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Am J Med Genet. 1989 Dec;34(4):574-8.

Microtia and associated anomalies: statistical analysis.

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Section of Genetics, Lutheran General Children's Medical Center, Park Ridge, Illinois.


Terms such as oculoauriculovertebral dysplasia, Goldenhar syndrome, and hemifacial microsomia have been used to describe microtia with specific combinations of other craniofacial anomalies. Microtia is also observed with anomalies of postcranial structures. Statistical studies were performed on 297 patients with microtia and other anomalies to identify subgroups of patients representing previously described or new associations. Analysis identified 15 subgroups of patients with specific patterns of anomalies. Log-linear analyses of cranial and postcranial variables demonstrated a positive association between mandibular hypoplasia and cervical spine fusion, which was, in turn, positively associated with other spine anomalies (P less than .02) and other skeletal anomalies (P less than .001). Although unilateral microtia was commonly observed with mandibular hypoplasia, mandibular hypoplasia was negatively associated with bilateral microtia. Many of the associated anomalies were of structures not derived from the 1st and 2nd branchial arch neural crest. However, most associated anomalies were of structures derived from migratory cell populations or populations undergoing differentiation prior to migration between the 19th and 24th day post-fertilization (neural crest, ectodermal placode, mesoderm, surface ectoderm). These findings suggest that many different cell populations may be disturbed in the pathogenesis of microtia in association with other anomalies. The timing of the pathogenetic event may determine the specific pattern of associated anomalies.

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