 |  | Rudolph's Pediatrics Section 12. Clinical Genetics and Dysmorphology > Part 3. Birth Defects, Malformations, and Syndromes > Chapter 177. Craniofacial DisordersBranchial Arch Derivative AnomaliesCarrie Lyn Heike and Michael L. Cunningham | |
Topics Discussed: branchio-oto-renal syndrome; craniofacial abnormalities; genetics and dysmorphology; goldenhar syndrome; mandibulofacial dysostosis.
Sections: Abnormal Head Shape, Ocular Hypertelorism and Frontonasal Dysplasia, Summary, References.
Excerpt:"Several human malformation syndromes and sporadic conditions
are associated with abnormalities in the development of the derivatives
of the first and second branchial arches. These conditions share
common symptoms and treatments and thus are discussed here together.The association of external ear anomalies (microtia, anotia,
canal atresia, and/or preauricular tags) with maxillary
and mandibular hypoplasia is the second most common craniofacial
malformation in humans, 1 in every 3000 to 5000 live births (eFig. 177.2). This condition,
referred to as craniofacial microsomia (CFM) (also known as hemifacial
microsomia, oculoauriculovertebral dysplasia, lateral face dysplasia,
or first and second branchial arch syndrome), can present with a wide
degree of severity. CFM can present as an isolated malformation
of craniofacial structures or can represent a component of a multiple
malformation complex (eg, Goldenhar syndrome, CHARGE, VATER). Some
children with apparently isolated microtia may have other extracranial
anomalies associated with CFM, and others may develop facial asymmetry
over time.12,13 Therefore, we consider microtia
to be a forme fruste of CFM. Because approximately 10% to 30% of
cases of HFM are bilateral, most clinicians prefer the term craniofacial
microsomia for this disorder.Although the etiology of CFM is unknown, there is evidence for
genetic contribution. Investigators suggest that CFM is secondary
to abnormal development of the..."
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