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Syndromes with craniofacial abnormalities

INTRODUCTION

Interruption of normal embryologic growth and differentiation of the face and skull results in a wide variety of craniofacial abnormalities. Craniofacial surgery, which consists of reconstruction of the cranial vault and/or facial skeleton, with or without simultaneous soft-tissue reconstruction, can be performed when these deformities interfere with physical and/or mental well-being.

Specific syndromes in which craniofacial abnormalities are the primary feature will be reviewed here. The pathogenesis, diagnosis, and surgical management of craniosynostosis, a subset of craniofacial anomalies, and syndromes in which craniosynostosis is a primary abnormality, are discussed separately. (See "Overview of craniosynostosis" and "Craniosynostosis syndromes".)

HEMIFACIAL MICROSOMIA

Hemifacial microsomia (HFM), also referred to as craniofacial microsomia, oculo-auriculo-vertebral spectrum, or first and second branchial arch syndrome, is a sporadically acquired association of anomalies that results from a defect in development of the first and second branchial arches, sometimes associated with vertebral and/or ocular anomalies [1-3]. Goldenhar syndrome appears to be part of this spectrum [4]. The disorder occurs in approximately 1 in 5,500 live births [5]. It is typically sporadic, but has been associated with a chromosomal abnormality in the 5p15 chromosome region [6].

The mechanism underlying craniofacial microsomia is uncertain. A vascular insult to the developing branchial arches is the most widely accepted explanation. In an animal model, hemorrhage induced in the region of the first and second branchial arches produced the characteristic facial features; the degree of abnormality was proportional to the size of the hematoma [7].

Clinical features — The stigmata of this disorder are indicated by the acronym OMENS, for orbit, mandible, ear, facial nerve, soft tissue [8]. Orbital distortion is typically present, as is mandibular hypoplasia. Ear anomalies include microtia, accessory preauricular tags and/or pits, and middle ear defects with hearing impairment (picture 1) [2]. Facial nerve involvement leads to hypoplasia of the facial muscles. Soft tissue deficiency, such as profound hypoplasia or absence of the parotid gland and masticatory muscles (temporalis, masseter) may be present.
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