Children born with cleft lip, cleft palate and other craniofacial disorders face numerous medical challenges beyond appearance.
Patients can face serious airway, feeding, speech and hearing problems, as well as social and psychological challenges, Laura Swibel Rosenthal, MD, of Loyola University Medical Center and colleagues write in the June 2012 issue of Otolaryngologic Clinics of North America."The management of patients with craniofacial syndromes is complex," Rosenthal and colleagues write. "Otolaryngologic [ear-nose-throat] evaluation is of paramount importance in providing adequate care for this patient population."
About 1 in 600 babies in the United States is born with a cleft lip and/or cleft palate, according to the Cleft Palate Foundation. The defect can range from a small notch in the lip to a grove that runs into the roof of the mouth. It can occur in isolation or in combination with other craniofacial birth defects. (A craniofacial disorder refers to an abnormality of the face and/or head.)
The first step in managing craniofacial patients is ensuring a safe airway. There's also a great potential for nasal obstruction and sleep apnea. And patients are at increased risk of developing upper airway problems such as sinusitis, laryngitis and rhinitis.
Hearing loss is common and often progressive. Thus, in addition to receiving standard newborn hearing screening, craniofacial patients should continue to receive periodic hearing tests, Rosenthal and colleagues write.
Craniofacial patients typically require several corrective surgeries, performed in staged fashion. Surgeons and anesthesiologists should be aware of the potential challenges these patients may have with general anesthesia.
The authors recommend a multidisciplinary approach, beginning with genetic counseling to determine the cause of the malformation, to inform parents about what to expect and to learn about the implications for other family members.
In addition to otolaryngologists, other specialists who typically care for craniofacial patients include pulmonologists, gastroenterologists, dentists and orthodontists. Depending on the congenital condition, a patient also may see pediatric specialists, such as cardiologists, ophthalmologists, neurosurgeons, endocrinologists, urologists, nephrologists and orthopaedic surgeons.
Most patients also need additional support services, including case management (social work), psychology or psychiatry, speech pathology, physical therapy, occupational therapy and other educational services.
The authors detail the management of major conditions associated with craniofacial disorders, including Apert syndrome, Crouzon syndrome, CHARGE syndrome, chromosome-22 and 22q11.2 deletion syndromes, DiGeorge syndrome, velocardiofacial syndrome (VCFS), Opitz G/BBB syndrome, congenital nasal pyriform aperture stenosis, Moebius syndrome, mandibulofacial dysostosis syndromes, oculoauricular-vertebral spectrum (OAVS), Goldenhar syndrome and Stickler syndrome.
Rosenthal is an assistant professor in the Departments of Otolaryngology and Pediatrics of Loyola University Chicago Stritch School of Medicine. Her special interests include cleft lip and palate, breathing difficulties, facial lesions, nasal/sinus problems, neck masses, pediatric ear, nose and throat, special-needs children and speech delay.
Co-authors are Nadieska Caballero, MD, of Loyola's Department of Otolaryngology and Amelia Drake, MD, of the University of North Carolina Hospital.
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