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Uvular malformation in the presence of deformational plagiocephaly
Kaete Archer1, Eileen Marrinan, Susan Stearns
1*Department of Otolaryngology and Communication Sciences †Department of Cell and Development Biology, State University of New York (SUNY) Upstate Medical University, Syracuse, NY.
Insights
Infants with deformational plagiocephaly (cranial asymmetry) show a significantly higher incidence of incomplete uvular fusion (16.4%) compared to the general population (1%). This study highlights a novel association between these conditions.
Area of Science:
- Craniofacial anomalies
- Pediatric health
- Genetics and developmental biology
Background:
- Deformational plagiocephaly affects 5-48% of newborns, characterized by skull asymmetry due to external forces.
- Incomplete uvular fusion, including bifid uvula, occurs in approximately 1% of healthy children and can indicate underlying palate issues.
Purpose of the Study:
- To investigate the prevalence of uvular malformations in infants diagnosed with deformational plagiocephaly.
- To determine if there is a statistically significant association between deformational plagiocephaly and incomplete uvular fusion.
Main Methods:
- Retrospective analysis of 146 infants with deformational plagiocephaly (excluding syndromic diagnoses) from 2006-2011.
- Data collection included patient demographics, birth factors, and clinical findings, specifically focusing on cranial flattening and uvular malformations.
Main Results:
- A statistically significant association was found, with 16.4% (24/146) of infants with deformational plagiocephaly exhibiting incomplete uvular fusion.
- The odds ratio for this association was 18 (95% CI, 11.1-28.9), indicating a substantially higher risk.
- No recorded signs or symptoms of velopharyngeal insufficiency were noted in the 14 patients with follow-up.
Conclusions:
- The incidence of incomplete uvular fusion is significantly elevated (16.4%) in infants with deformational plagiocephaly compared to the general population (approx. 1%).
- This study provides the first reported evidence linking uvular malformations with deformational plagiocephaly.
Background:
Deformational plagiocephaly is cranial asymmetry caused by external forces on the skull. Deformational plagiocephaly is seen in 5% to 48% of healthy newborns. Incomplete uvular fusion, in contrast, is one of many uvular malformations. The incidence of all degrees of incomplete uvular fusion is approximately 1% in healthy children. Bifid uvula is a malformation that is often considered a microform cleft palate or a marker for submucous cleft palate.
Methods:
This is a retrospective study of patients with deformational plagiocephaly seen at the Upstate Cleft and Craniofacial Center between January 1, 2006, and September 30, 2011. Patients were identified by the International Classification of Diseases, Ninth Revision code for plagiocephaly. Seventy-nine patients were excluded with craniosynostosis and syndromic diagnoses. One hundred forty-six patients with deformational plagiocephaly were included in the study. Data were collected for sex, age at presentation, parity, multiple births, delivery, oligohydramnios, cephalohematoma, uterine abnormalities, fetal position, and intrauterine growth restriction. Clinical findings were collected including location of cranial flattening and uvular malformations.
Results:
Twenty-four of 146 patients with deformational plagiocephaly had incomplete fusion of the uvula ranging from complete bifid uvula to a notched uvular tip (16.4%). This association was statistically significant (odds ratio, 18; 95% confidence interval, 11.1-28.9). Most patients (62.3%) were male. We recorded primiparity (44.5%), multiple births (17.1%), vacuum-assisted delivery (6.2%), cesarean section (36.3%), oligohydramnios (4.1%), uterine abnormalities (2.1%), abnormal fetal position (3.4%), and intrauterine growth restriction (1.4%). Ten of the 24 patients with plagiocephaly and uvular malformation were seen for an initial consultation only in our chart system. Of the remaining 14 patients with follow-up, none had recorded signs or symptoms of velopharyngeal insufficiency.
Conclusions:
The incidence of incomplete uvular fusion in infants with deformational plagiocephaly is 16.4%, which is significantly higher than the approximate 1% incidence reported in the general population. This is the first report of uvular malformation in the presence of deformational plagiocephaly.
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