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Palatal abnormalities in hemifacial microsomia: incidence and implications
Alexander J. Gougoutas, MD, Cynthia Solot, MA, CCC, Linton A. Whitaker, MD, Scott P. Bartlett, MD, Oksana Jackson, MD.
Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Palatal abnormalities in hemifacial microsomia: incidence and implications
Background: Hemifacial microsomia (HFM) refers to a broad spectrum of congenital abnormalities that manifests as variable hypolasia of structures derived from the first and second brachial arches. Clinically it manifests as under development of half, and in rarer cases, both sides of the facial skeleton and its overlying soft tissue. While the palatal musculature is derived, in part, from the first and second brachial arches, it is not surprising that HFM children frequently display palatal anomalies. The incidence of palatal anomalies in the HFM population has, however, been the source of little formal investigation.
Objective: To investigate the incidence of palatal abnormalities including cleft palate (CP), submucous cleft palate (SMCP) and velopharyngeal insufficiency (VPI) in HFM, and review the treatment and outcomes in a large series of HFM patients.
Methods: We retrospectively reviewed the charts of 46 patients diagnosed with hemi or bifacial microsomia at the Children’s Hospital of Philadelphia between the years 1985-2005. All patients had been evaluated on an annual or nearly annual basis by a complete craniofacial team. Palatal anatomy was assessed by physical examination and nasoendoscopy when indicated, and speech was assessed utilizing the Pittsburgh Weighted Values for Speech Symptoms Associated with VPI. Nasal emission and nasality were graded by the speech pathologist at each patient visit and assigned weighted numeric values ranging from 0-3 and 0-4 respectively. Abnormal nasal emission or nasality was considered diagnostic of VPI. Nasal emission values ranging between 1-2 were considered mild / moderate while a value of 3 was considered severe. Nasality values ranging between 1-2 were considered mild / moderate while those values between 3-4 were considered severe.
Results: Overall, palatal abnormalities were demonstrated in 14/46 (30%) of HFM patients. The incidence of CP, SMCP and VPI in the HFM population studied was
3/46 (6.5%), 4/46 (8.7%) and 14/46 (30%) respectively. Of the 14 patients demonstrating VPI, 5/14 (36%) demonstrated mild / moderate nasal emission or hypernasality while 9/14 (64%) demonstrated severe nasal emission or hypernasality. There was a trend toward improvement in resonance and emission with speech therapy alone. Although several patients were noted to have worsening of their resonance after mandibular distraction, this was not statistically significant.
Conclusions: Palatal abnormalities occur frequently in the HFM population and should be routinely screened for at each patient evaluation. Although palatal clefting is uncommon, VPI of varying severity is particularly common with an incidence of 30%. A higher incidence of VPI has not been demonstrated, to our knowledge, in any other craniofacial population with the exception of those with 22q11.2 Deletion Syndrome.


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