Preface: Craniofacial Surgery for the Facial Plastic Surgeon xiii

Lisa M. Morris and Sherard A. Tatum

Genetic Evaluation for Craniofacial Conditions 405

Howard M. Saal

There are thousands of craniofacial disorders, each with a different etiology. All cases of orofacial clefts have an underlying genetic cause, ranging from multifactorial with an underlying genetic predisposition to chromosomal and single-gene etiologies. More than 50% of cases of Pierre Robin sequence are syndromic and 25% of craniosynostoses are syndromic. Clinical genetics evaluation is important for each patient with a craniofacial condition to make a proper diagnosis, counsel the family, and assist in management. This is an overview of the major components of the clinical genetics evaluation with a review of many syndromes associated with craniofacial disorders.

Genetic Evaluation for Craniofacial Conditions 405

Howard M. Saal

There are thousands of craniofacial disorders, each with a different etiology. All cases of orofacial clefts have an underlying genetic cause, ranging from multifactorial with an underlying genetic predisposition to chromosomal and single-gene etiologies. More than 50% of cases of Pierre Robin sequence are syndromic and 25% of craniosynostoses are syndromic. Clinical genetics evaluation is important for each patient with a craniofacial condition to make a proper diagnosis, counsel the family, and assist in management. This is an overview of the major components of the clinical genetics evaluation with a review of many syndromes associated with craniofacial disorders.

Early Airway Intervention for Craniofacial Anomalies 427

Lauren A. Bohm, James D. Sidman, and Brianne Roby

This article reviews the presentation of children with craniofacial anomalies by the most common sites of airway obstruction. Major craniofacial anomalies may be categorized into those with midface hypoplasia, mandible hypoplasia, combined midface and mandible hypoplasia, and midline deformities. Algorithms of airway interventions are provided to guide the initial management of these complex patients.

Feeding Management in Infants with Craniofacial Anomalies 437

Jill M. Merrow

Video content accompanies this article at http://www.facialplastic.theclinics.com .

The instinctual drive to gain nourishment can become complicated by structural differences, physiologic instability and environmental influences. Infants with craniofacial anomalies may experience significant feeding and swallowing difficulties related to the type and severity of the anomalies present as well as social-emotional interactions with caregivers. Typical outcome measures and feeding goals are discussed. Details regarding clinical and instrumental evaluation, including fiberoptic endoscopic evaluation of swallowing and modified barium swallow study, as well as management techniques are reported.

Evaluation of Speech and Resonance for Children with Craniofacial Anomalies 445

Ann W. Kummer

Video content accompanies this article at http://www.facialplastic.theclinics.com .

Children with craniofacial anomalies often demonstrate disorders of speech and/or resonance. Anomalies that affect speech and resonance are most commonly caused by clefts of the primary palate and secondary palate. This article discusses how speech-language pathologists evaluate the effects of dental and occlusal anomalies on speech production and the effects of velopharyngeal insufficiency on speech sound production and resonance. How to estimate the size of a velopharyngeal opening based on speech characteristics is illustrated. Nasometry, nasopharyngoscopy, and low-tech tools are discussed as adjunct methods to aid in the evaluation, treatment planning, and measurement of outcomes.

Cleft Lip Repair, Nasoalveolar Molding, and Primary Cleft Rhinoplasty 453

Aditi A. Bhuskute and Travis T. Tollefson

Video content accompanies this article at http://www.facialplastic.theclinics.com .

Cleft lip and palate are the fourth most common congenital birth defect. Management requires multidisciplinary care owing to the complexity of these clefts on midface growth, dentition, Eustachian tube function, and lip and nasal cosmesis. Repair requires planning, but can be performed systematically to reduce variability of outcomes. The use of primary rhinoplasty at the time of cleft lip repair can improve nose symmetry and reduce nasal deformity. Use of nasoalveolar molding ranging from lip taping to the use of preoperative infant orthopedics has played an important role in improving functional and cosmetic results of cleft lip repair.