Bony Deformity

Eugene A. Chu

There is a wide range of craniomaxillofacial deformities. Appropriate management is based on obtaining the proper diagnosis. This may be facilitated by organizing the broad differential into three categories: congenital, traumatic, and neoplastic. Despite advances in imaging, the history and the physical remain critical aspects to arriving at the correct diagnosis.

Congenital

Craniofacial anomalies are a group of deformities of the bones of the face and skull. They may occur in isolation, such as cleft lip, or as part of a recognized syndrome. The etiology of most craniofacial abnormalities is multifactorial involving both environmental and genetic factors. Table 77.1 lists some common craniofacial syndromes.

**Table 77.1** Common Craniofacial Syndromes
Syndrome	Clinical Findings
Waardenburg syndrome	Sensorineural hearing loss, partial albinism (white forelock usually), heterochromic iris, laterally displaced medial canthi
Pierre Robin syndrome	Micrognathia with glossoptosis, mandibular hypoplasia, cleft palate
Treacher Collins syndrome	Malformed external ear, mandibular and malar hypoplasia, antimongoloid slant of the palpebral fissures, coloboma of the lower eyelid, conductive hearing loss
Goldenhar syndrome	Facial asymmetry, unilateral malformed external ear with preauricular tags and sinuses, conductive hearing loss, microphthalmia, epibulbar lipodermoid, macrostomia with mandibular hypoplasia, vertebral abnormalities
Velocardiofacial syndrome	Cleft palate, hypernasal speech, cardiac abnormalities, characteristic facies

Other congenital bony deformities include the following:

Cleft lip: Usually soft tissue only, but a complete cleft can include the entire lip and the underlying premaxilla.

Cleft palate: Occurs during fetal development when there is incomplete fusion of the palate. The degree of clefting can vary from a submucous cleft where the musculature of the palate is deficient to a complete cleft palate with involvement of the hard palate, soft palate, and uvula.

Craniosynostosis: Premature fusion of the cranial sutures resulting in an abnormal head shape. Simple craniosynostosis involves a single suture, whereas compound craniosynostosis involves two or more sutures.