Cleft Lip and Palate in Ectodermal Dysplasia.

OBJECTIVE: Ectodermal dysplasia (ED) comprises multiple syndromes that affect skin, hair, nails, and teeth, and sometimes are associated with orofacial clefting. The purpose of this study is to (1) identify the prevalence and characteristics of cleft lip and/or palate (CL/P) in patients with ED and (2) describe the management and outcomes. DESIGN: Retrospective review from 1990 to 2019. PATIENTS: All patients with ED treated at Boston Children's Hospital. MAIN OUTCOMES MEASURES: Prevalence of CL/P was calculated and clinical details recorded: phenotypic anomalies, cleft type, operative treatment, and results of repair. RESULTS: Of 170 patients with a purported diagnosis of ED, 24 (14%) had CL/P. Anatomic categories were bilateral CL/P (67%), unilateral CL/P (8%), and cleft palate only (25%). The most common ED syndrome (37%) was ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC). Pathogenic variants in TP63 were the most frequent finding in the 11 patients who had genetic testing. Aberrations from a typical clinical course included failure of presurgical dentofacial orthopedics, dehiscence of nasolabial adhesion, and total palatal absence requiring free-flap construction. Two patients had prolonged postoperative admission for respiratory infection. High fistula (8%) and velopharyngeal insufficiency (33%) rates reflected the predominance of bilateral complete forms. CONCLUSIONS: As in other types of syndromic CL/P, cleft phenotypic expression in ED is more severe than the general cleft population. Further studies are needed to correlate genotype and phenotype for the distinct syndromes included in the ED spectrum.

Retroposition of the Globe After Le Fort III Midfacial Distraction.

BACKGROUND: Patients with syndromic craniosynostosis exhibit exorbitism due to supraorbital and midfacial retrusion. This study documented the change in sagittal orbital-globe relationship following Le Fort III midfacial advancement. METHODS: This retrospective case series comprised patients with syndromic craniosynostosis who underwent midfacial distraction from 1997 to 2016. Changes in sagittal globe position in relation to the orbital rims were measured by pre- and postoperative direct anthropometry, computed tomographic scans, or both methods. Descriptive statistics were calculated; significance was set at P < 0.05. RESULTS: Anthropometry showed a significant increase from superior orbital rim-to-corneal apex (os-acor) (4.1 ±â€Š4.0 mm, P < 0.001) and from inferior orbital rim-to-corneal apex (oi-acor) (4.5 ±â€Š5.3 mm, P < 0.001). The lateral orbital rim to the corneal apex (ol-acor) dimension did not change significantly. Computed tomography measurements confirmed retropositioned globes relative to the anterior border of the orbital cavity (2.5 ±â€Š6.4 mm, P = 0.036). The 2 analytic methods yielded statistically similar results. CONCLUSION: The globes move posteriorly a mean of 2.5 to 4.5 mm following Le Fort III midfacial distraction in patients with syndromic craniosynostosis. This finding is useful in attaining euophthalmos when planning and executing this procedure.

Development of the Submental Nasal Appearance Scale for the Assessment of Repaired Unilateral Complete Cleft Lip: A Pilot Study.

OBJECTIVE: To develop the "Submental Nasal Appearance Scale" (SNAS), which is an easy-to-use objectified tool to represent a cleft surgeon's standard for assessment of the nasal appearance from the submental perspective. DESIGN: Eighty-five photographs of patients with unilateral complete cleft lip and palate were selected and cropped, displaying the submental view. Sixty-one photographs were used to develop 5 sets of reference photographs. Three cleft surgeons graded 24 photographs with these sets and subjectively graded the overall nasal appearance as well. Internal agreement for both methods was calculated, as well as correlation between them. The SNAS was created, by only using the combination of sets that showed the highest reliability and correlation. SETTING: Boston Children's Hospital, Boston, Massachusetts. PATIENTS: Six- to 9-year-old patients with unilateral complete cleft lip and palate. RESULTS: The intrarater and interrater reliability was 0.84 and 0.79, respectively, for the SNAS and 0.76 and 0.62, respectively, for the overall appearance assessment. The correlation was 0.74 between the methods. CONCLUSIONS: The SNAS is a reliable tool that reflects a cleft surgeon's standard and could be used independently or in combination with existing rating scales using the frontal and/or lateral view, for assessment after cleft lip repair.

Pharyngeal Flap Is Effective Treatment for Post Maxillary Advancement Velopharyngeal Insufficiency in Patients With Repaired Cleft Lip and Palate.

PURPOSE: Patients with repaired cleft lip and cleft palate (CL/P) can develop velopharyngeal insufficiency (VPI) after Le Fort I maxillary advancement. The aim of this study was to evaluate speech outcomes in patients who required a pharyngeal flap after Le Fort I maxillary advancement. PATIENTS AND METHODS: This retrospective cohort study included all patients with repaired CL/P who underwent a Le Fort I osteotomy and subsequently required a pharyngeal flap to correct VPI. Patients were included if they had outcome measurements documented at 3 time points: 1) before Le Fort I (baseline), 2) after Le Fort I, and 3) after pharyngeal flap. Outcome measurements, including speech characteristics (resonance, nasal emission, and intraoral pressure) and velopharyngeal function, were evaluated on perceptual assessment by a speech pathologist specializing in cleft care. Velopharyngeal closure was assessed with multi-view videofluoroscopy or nasopharyngoscopy. Patient characteristics and descriptive statistics were summarized and continuous data were expressed as mean ± standard deviation. Repeated-measures analysis of variance and paired samples t test were used to measure changes in speech outcome variables between time points. All P values were 2-tailed and considered significant for values less than .05. RESULTS: There were 23 patients for analysis (13 girls [56.5%] and 10 boys [43.5%]). Two patients (9%) had cleft palate only, 9 (39%) had unilateral cleft lip and palate (CLP), and 12 (52%) had bilateral CLP. Follow-up evaluations performed on average 12 months postoperatively showed statistically meaningful improvement for all variables, including decreased hypernasality, reduced nasal emission, and increased intraoral pressure for consonant production. Patients with repaired CL/P who had VPI after Le Fort I maxillary advancement showed significant improvement in all outcome measurements after pharyngeal flap (P < .001). CONCLUSIONS: The superiorly based pharyngeal flap is highly successful in correcting VPI after Le Fort I maxillary advancement in patients with repaired CL/P.

Primary Premaxillary Setback and Repair of Bilateral Complete Cleft Lip: Indications, Technique, and Outcomes.

OBJECTIVE: To analyze indications and outcomes for primary premaxillary setback. DESIGN: Retrospective. SETTING: Academic children's hospital. PATIENTS: All children with bilateral complete cleft lip age ≤2 years of age who had premaxillary setback by one surgeon (1992 to 2011). RESULTS: Twenty-five patients with bilateral complete cleft lip underwent primary premaxillary setback at an average age of 9 months; the mean follow-up was 47 months. There were three indications: failed dentofacial orthopedics (n = 9), delayed referral precluding manipulation (n = 10), and intact secondary alate (n = 6). Of 19 patients with bilateral complete cleft lip/palate, primary setback was combined with nasolabial repair (n = 11), adhesions (n = 2), or palatoplasty (n = 6). Patients who had nasolabial closure and setback were significantly younger than those who had combined palatal closure and setback (6.5 versus 16 months, P = .01). No patient exhibited postoperative premaxillary instability. Serial anthropometry showed similar growth of nasolabial features after both primary setback (n = 9) and active dentofacial orthopedics (n = 35). CONCLUSIONS: Primary premaxillary ostectomy and setback permits synchronous bilateral nasolabial-alveolar closure or alveolar-palatal repair in a child with intact secondary palate. This procedure should be considered whenever dentofacial orthopedics cannot be accomplished. Speech is paramount in an older child; setback with palatal closure is scheduled before nasolabial repair. Disturbance of midfacial growth is likely following primary premaxillary ostectomy and setback in patients with bilateral complete cleft lip/palate; however, most already need maxillary advancement. Furthermore, premaxillary setback permits proper primary nasolabial design and construction in appreciation of expected changes with growth.

Effectiveness of Tongue-lip Adhesion for Obstructive Sleep Apnea in Infants With Robin Sequence Measured by Polysomnography.

OBJECTIVE: Tongue-lip adhesion (TLA) is commonly used to relieve obstructive sleep apnea (OSA) in infants with Robin sequence (RS), but few studies have evaluated its efficacy with objective measures. The purpose of this study was to measure TLA outcomes using polysomnography. Our hypothesis was that TLA relieves OSA in most infants. METHODS: This is a retrospective study of infants with RS who underwent TLA from 2011 to 2014 and had at least a postoperative polysomnogram. Predictor variables included demographic and birth characteristics, surgeon, syndromic diagnosis, GILLS score, preoperative OSA severity, and clinical course. A successful outcome was defined as minimal OSA (apnea-hypopnea index score < 5) on postoperative polysomnogram and no need for additional airway intervention. Descriptive, bivariate, and regression statistics were computed, and statistical significance was set at P < .05. RESULTS: Eighteen subjects who had TLA at a mean age of 28 ± 4.7 days were included. Thirteen (72.2%) had a confirmed or suspected syndrome, and the mean GILLS score was 3 ± 0.3. All parameters trended toward improvement from the preoperative to postoperative polysomnograms, and improvement in OSA severity, oxygen saturation nadir, and arousals per hour was statistically significant (P < .02). This effect was significant across categories of surgeon, syndrome, and GILLS score. Nine subjects (50%) met the criteria for a successful outcome. Bivariate and regression analyses did not demonstrate a significant relationship between success and any predictor variable. CONCLUSIONS: TLA improved airway obstruction in all infants with RS but resolved OSA in only nine patients, and success was unpredictable.

Upper Airway Length is Predictive of Obstructive Sleep Apnea in Syndromic Craniosynostosis.

PURPOSE: Midfacial hypoplasia is a characteristic feature of the syndromic craniosynostoses and predisposes these patients to developing obstructive sleep apnea (OSA). The purpose of this study was to identify anatomic factors associated with airway obstruction in patients with syndromic craniosynostoses. MATERIALS AND METHODS: This was a retrospective cohort study. The authors enrolled a study sample composed of patients with syndromic craniosynostoses. The predictor variables were age, gender, body mass index (BMI), syndromic diagnosis, and parameters of upper airway length and size measured on lateral cephalograms. To control for age, upper airway length was corrected for differences in patient height. The outcome variable was OSA status (present or absent). Descriptive, bivariate, and regression statistics were computed. For all analyses, a P value less than or equal to .05 was considered statistically significant. RESULTS: The sample was composed of 50 patients with a mean age of 10.3 ± 0.6 years, 50% were boys, and 24 (48%) had OSA. Patients with and without OSA did not differ statistically in age, gender, BMI, or syndromic diagnosis. Those with OSA had increased upper airway length (P = .016), decreased posterior airway space (P = .001), and more severe midfacial retrusion (P = .022) compared to patients without OSA. After adjusting for covariates, the odds ratio for OSA was 32.9 in patients with an upper airway longer than 45.3 mm per meter of height (P = .018), and for every 1-mm decrease in posterior airway space, the risk of OSA increased by 30% (P = .022). CONCLUSIONS: Patients with syndromic craniosynostosis and OSA have a longer upper airway, smaller posterior airway space, and more severe midfacial retrusion than those without OSA.

Sir William Arbuthnot Lane and His Contributions to Plastic Surgery.

Surgical subspecialties were just emerging at the turn of the 20th Century, before this time, general surgeons had to adjust their operative skills to address disorders throughout the body. Sir William Arbuthnot Lane was a British surgeon, whose restless mind led him to wander throughout the field of general surgery and beyond. Although controversial, he advanced in the repair of cleft lip and palate, introduced the "no touch" operative technique, internal fixation of fractures, and is credited as the first surgeon to perform open massage of the heart. During The Great War, he established the British Plastic Surgery unit at Sidcup and delegated the care of facial and jaw injuries to young Major Harold Gillies. Lane later founded The New Health Society, an organization that stimulated the natural food movement. Sadly, in his latter years Lane's thinking drifted further away from with the times and his professional credibility waned. Nevertheless, Lane's variegated life is of sufficient interest to deserve reassessment.

The Habsburg Jaw-re-examined.

"Habsburg Jaw" is a frequently used eponymous designation for patients with mandibular prognathism, hyperplasia, or overgrowth. The purpose of this study was to evaluate portraits of the Spanish Habsburgs to determine the relative contributions of maxillary deficiency and mandibular prognathism to overall facial appearance. Representative portraits of the Spanish Habsburgs were assessed by 4 investigators for the presence of 11 anatomic features of maxillary deficiency and 7 of mandibular prognathism. Each characteristic was given a binary score of 1 if present and 0 if absent. Thus, the maximum score would be 11 for maxillary deficiency and 7 for mandibular prognathism. A semi-quantitative scale was established to determine the likelihood of each diagnosis: Maxillary deficiency: 0-4.99 (unlikely), 5-7.99 (likely), 8-11 (very likely); mandibular prognathism: 0-2.99 (unlikely), 3-5.99 (likely), 6-7 (very likely). Six of 7 Habsburg rulers were considered either likely or very likely to have maxillary deficiency, whereas 3/7 were assessed as likely and 4 unlikely to have mandibular prognathism. The results of this study suggest that the primary deformity of the "Habsburg Jaw" is maxillary deficiency rather than absolute mandibular prognathism.

Experimental Comparison of Cranial Particulate Bone Graft, rhBMP-2, and Split Cranial Bone Graft for Inlay Cranioplasty.

Background : Particulate bone graft and recombinant human bone morphogenetic protein-2 (rhBMP-2) are options for inlay cranioplasty in children who have not developed a diploic space. The purpose of this study was to determine whether particulate bone graft or rhBMP-2 has superior efficacy for inlay cranioplasty and to compare these substances to split cranial bone. Methods : A 17 mm × 17 mm critical-sized defect was made in the parietal bones of 22 rabbits and managed in four ways: Group I (no implant; n=5), Group II (particulate bone graft; n=5), Group III (rhBMP-2; n=7), and Group IV (split cranial bone graft; n=5). Animals underwent microcomputed tomography and histologic analysis 16 weeks after cranioplasty. Results : Defects without an implant (Group I) demonstrated inferior ossification (41.4%; interquartile range [IQR], 28.9% to 42.5%) compared to those treated with particulate bone graft (Group II: 99.5%; IQR, 97.8% to 100%), rhBMP-2 (Group III: 99.6%; IQR, 99.5% to 100%), or split cranial bone (Group IV: 100%) (P < .0001). There was no difference between Groups II, III, and IV (P = .1). Defects treated with rhBMP-2 exhibited thinner bone (0.90 mm; IQR, 0.64 to 0.98) than particulate bone graft (1.95 mm; IQR, 1.09 to 2.83) or split cranial bone (1.72 mm; IQR, 1.54 to 1.88) (P = .006); particulate and split cranial bone grafted defects had a similar thicknesses (P = .6). Conclusions : Particulate bone graft, rhBMP-2, and split cranial bone close inlay calvarial defect areas equally, although the thickness of bone healed with rhBMP-2 is inferior. Clinically, particulate bone graft or split cranial bone graft may be superior to rhBMP-2 for inlay cranioplasty.

Facial growth in children with complete cleft of the primary palate and intact secondary palate.

PURPOSE: Children with unoperated cleft lip/palate have nearly normal facial growth, whereas patients who have had labiopalatal repair often exhibit midfacial retrusion. The aim of this study was to compare cephalometric data in patients with repaired unilateral or bilateral complete cleft lip/alveolus (UCCLA or BCCLA) with patients with repaired unilateral or bilateral complete cleft lip/palate (UCCLP or BCCLP). This study might provide insight into the etiology of impaired facial growth in patients with repaired cleft lip/palate. MATERIALS AND METHODS: This was a retrospective, cross-sectional analysis of nonsyndromic patients with UCCLA, BCCLA, UCCLP, and BCCLP. Angular and linear measurements of the midfacial region were made on traced lateral cephalograms. Paired t tests were used to compare each group with normative controls from the Michigan Growth Study. Multivariate analysis of variance was used to determine possible differences among the groups. RESULTS: There were 77 patients (38 male and 39 female) with a mean age of 11.2 years (range, 6 to 16 years; UCCLA, n = 25; BCCLA, n = 7; UCCLP, n = 18; and BCCLP, n = 27). There was no significant difference in midfacial position between the UCCLA and BCCLA groups and noncleft age-matched controls. In contrast, the maxilla in patients with UCCLP and BCCLP was significantly smaller and more retruded (P < .05) compared with patients with UCCLA and BCCLA and controls. CONCLUSIONS: Children with UCCLA and BCCLA appear to have normal midfacial growth, whereas the maxilla in children with UCCLP and BCCLP is small and retrusive. This study suggests that the presence and/or repair of the secondary palate is responsible for midfacial hypoplasia in these patients.

TFAP2A mutations result in branchio-oculo-facial syndrome.

Branchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity. The major features include cutaneous anomalies (cervical, infra- and/or supra-auricular defects, often with dermal thymus), ocular anomalies, characteristic facial appearance (malformed pinnae, oral clefts), and, less commonly, renal and ectodermal (dental and hair) anomalies. The molecular basis for this disorder is heretofore unknown. We detected a 3.2 Mb deletion by 500K SNP microarray in an affected mother and son with BOFS at chromosome 6p24.3. Candidate genes in this region were selected for sequencing on the basis of their expression patterns and involvement in developmental pathways associated with the clinical findings of BOFS. Four additional BOFS patients were found to have de novo missense mutations in the highly conserved exons 4 and 5 (basic region of the DNA binding domain) of the TFAP2A gene in the candidate deleted region. We conclude BOFS is caused by mutations involving TFAP2A. More patients need to be studied to determine possible genetic heterogeneity and to establish whether there are genotype-phenotype correlations.

Predictors of velopharyngeal insufficiency after Le Fort I maxillary advancement in patients with cleft palate.

PURPOSE: Approximately 25% to 40% of patients with cleft lip/palate develop maxillary retrusion that requires Le Fort I osteotomy. Maxillary advancement brings the soft palate forward, and this may cause velopharyngeal insufficiency (VPI). The goal of this study was to identify predictors that place patients with repaired cleft palate at risk of developing VPI after Le Fort I advancement. MATERIALS AND METHODS: This was a retrospective study of nonsyndromic patients with cleft lip/palate who had a Le Fort I osteotomy between 2000 and 2008. Charts were reviewed and data were collected on patient characteristics, preoperative speech assessments, and nasopharyngoscopic reports. Pre- and postoperative cephalometric radiographs were used to measure maxillary advancement and to assess the structure of the velopharynx. Simple logistic regression analysis examined the association between each predictive variable and postoperative VPI, as indicated by need for pharyngeal flap. Predictors with P ≤ .10 were included in the multivariate regression model. In both the univariate and the multivariate analyses, P ≤ .05 was considered statistically significant. RESULTS: Univariate analysis showed a significant association between preoperative soft palatal length and need for a pharyngeal flap (P = .005). By multivariate analysis, both preoperative soft palatal length and postoperative pharyngeal depth were associated with need for pharyngeal flap (P = .003 and P = .030). CONCLUSION: This study shows that a short soft palate is associated with VPI after Le Fort I osteotomy. Assessment of palatal length and pharyngeal depth on cephalometric radiographs is helpful in predicting postoperative VPI and need for a pharyngeal flap in patients with cleft palate after maxillary advancement.

Thickness of orbicularis oris muscle in unilateral cleft lip: before and after labial adhesion.

BACKGROUND: Our protocol for closure of unilateral complete or severe incomplete cleft lip begins with active dentofacial orthopedics (Latham device) followed by nasolabial adhesion and alveolar gingivoperioplasty. We have observed that preliminary adhesion provides more orbicularis oris muscle for the second-stage labial repair. METHODS: A quantitative prospective assessment of all patients undergoing nasolabial adhesion by the senior author between November of 2009 and July of 2010 was undertaken to assess whether there is an increase in lateral orbicularis oris muscle mass by the time of formal repair. Standard anthropometric points were placed before nasolabial adhesion and again at the second-stage closure. Ultrasonographic measurements of orbicularis muscle thickness were made on both lateral labial elements along a line drawn between sbal and cphi. The mean interval increase in thickness of lateral orbicularis oris was determined. RESULTS: Sixteen patients underwent nasolabial adhesion during the study period. Four patients with asymmetric bilateral cleft lip patients and 2 patients who did not have a second ultrasonographic study were excluded. The remaining 10 patients in the study had a nasolabial adhesion at a mean age of 3.9 months (range, 3.1-4.3 months). Mean orbicularis oris thickness before adhesion was 0.7 mm on the cleft side and 1.2 mm on the noncleft side. The increase in orbicularis thickness after the mean interoperative interval of 2.9 months (range, 2.6-3.5 months) was calculated. On the cleft side, there was 0.8 mm (138%) mean increase in orbicularis oris muscle thickness compared with 0.4 mm (32%) mean increase on the noncleft side. CONCLUSIONS: Labial adhesion in preparation for repair of unilateral complete or severe incomplete cleft lip results in a measurable increased thickness of lateral orbicularis oris. This additional muscular bulk is useful in construction of the philtral ridge.

Meningoencephalocele and other dural disruptions: complications of Le Fort III midfacial osteotomies and distraction.

OBJECTIVE: Complications of Le Fort III midfacial advancement include cerebrospinal fluid (CSF) rhinorrhea, meningitis, and ocular and cerebral injury. This report reviews our experience with Le Fort III distraction, highlighting complications of dural disruption, and correlates occurrences with the anatomy of the cranial base and prior cranial procedures. METHODS: This was a retrospective chart review of all patients who had Le Fort III subcranial osteotomies and midfacial advancement with distraction. Complications related to dural disruption were documented. The anatomy of the anterior cranial fossa was assessed with preoperative computed tomographic (CT) scans and compared with age- and sex-matched normal control scans, with particular attention paid to the anterior cranial fossa and fovea ethmoidalis (FE). On reconstructed midline sagittal images, the anterior cranial fossa was characterized as normal, sagging, or slanting. On reconstructed coronal images, immediately posterior to the plane of the lacrimal sac, each FE was characterized as normal, flattened, or depressed, relative to the adjacent cribriform plates. RESULTS: Thirty-one patients have had Le Fort III midfacial advancement with distraction at Children's Hospital Boston since 1995. Two patients underwent a second Le Fort III distraction. Two patients (6.5%) had postoperative CSF rhinorrhea, 2 had CSF leak at a pin site, and 1 patient had a late complication of meningoencephalocele. Twenty-six patients had 27 available preoperative three-dimensional reformatted CT scans. Seven of these had a normal sagittal anterior cranial fossa and normal coronal FE morphology. One of these 7 patients had a second CT at an older age showing development of bilateral FE flattening. Eleven patients had a sagging midline anterior cranial fossa including both patients who developed CSF rhinorrhea. Of these 11 patients, all had unilateral or bilateral flattening or depression of the FE, and 5 had abnormal slanting of the anterior cranial fossa. Eight patients had normal sagittal morphology, but bilateral or unilateral depression of the FE, including the patient who developed a meningoencephalocele. All patients with CSF leak had previously had a fronto-orbital advancement (FOA). Three of 4 patients with CSF leak did not have prior ventriculoperitoneal shunt placement. The patient with postoperative meningoencephalocele had prior FOA and shunt. CONCLUSIONS: We studied the abnormal position of the sagging or slanted anterior cranial base and depressed FE in patients with syndromic coronal synostosis. These findings may explain the risk for dural tear during osteotomies at the nasofrontal suture and superior-medial orbital wall. Attention to the morphology of the anterior cranial base, as seen on sagittal and coronal CT images, aids in preventing these complications. Patients who have a shunt are at lower risk for CSF leak; however, patients who have had an FOA are at higher risk.

Philtral Ridge Projection in Repaired Unilateral Cleft Lip: Three-Dimensional Anthropometry.

BACKGROUND: Cleft surgeons try to construct a philtral ridge during primary repair of a cleft lip, but rarely document the results. The authors used three-dimensional photogrammetry to measure projection of philtral ridges after closure of the common forms of unilateral labial cleft. METHODS: This is a retrospective study of patients with unilateral complete, incomplete (moderate and severe), and microform cleft lip repaired by one surgeon from 2000 to 2013. Cleft type determined the technique for building a philtral ridge. The relative elevation of the ridge on the cleft versus noncleft side was measured on three-dimensional childhood photographs at two locations along the philtrum: just above the Cupid's bow and at the midlabial level. RESULTS: Thirty-four patients were evaluated at a mean age of 9.25 years. All cleft types exhibited greater projection at the philtral midlabial level compared with the Cupid's bow level. The authors found a trend toward a more prominent cleft side philtral ridge in microforms. In incomplete cleft lips, there was slightly greater philtral ridge projection in severe forms repaired after a preliminary nasolabial adhesion compared with those repaired in a single stage. There was similar projection of the cleft side ridge in two-stage complete and single-stage repaired incomplete lips. CONCLUSIONS: It is possible to construct a philtral ridge that is as prominent as the noncleft side in all types of unilateral cleft lip. Increased muscle thickness may explain the slightly increased philtral ridge projection in patients with an incomplete cleft repaired in two stages compared to one-stage closure. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Effect of a syndromic diagnosis on mandibular size and sagittal position in Robin sequence.

PURPOSE: Despite its pathogenic heterogeneity, it is often assumed that the small mandible in a neonate with Robin sequence will not grow normally. The purpose of this study was to determine mandibular length and position in patients with nonsyndromic versus syndromic Robin sequence. PATIENTS AND METHODS: Lateral cephalograms of 51 children with Robin sequence were analyzed. Group I consisted of nonsyndromic (NS) subjects and group II consisted of subjects with the 4 most common syndromic (S) diagnoses. Cephalometric measurements included sella-nasion-A point (SNA), sella-nasion-B point (SNB), sella-nasion-pogonion (SNPg), articulare-gonion-pogonion (ArGoPg), temporomandibular joint-pogonion (TmPg), articulare-gonion (ArGo), and gonion-pogonion (GoPg). Differences between groups and subgroups were compared using t test. RESULTS: There were 26 NS patients (mean age, 6.8 yrs) and 25 S patients (mean age, 8.7 yrs); mean age was statistically different between groups (P = .04); therefore, cephalometric measurements were compared with age-matched normal values. Syndromes included Stickler (n = 10), bilateral facial microsomia (n = 8), velocardiofacial (n = 4), and Treacher Collins (n = 3). SNA was statistically different from normal in both groups (NS, P = .017; S, P = .007); however, SNB was not different from normal for either group (NS, P = .175; S, P = .537). SNPg (0.007) was significantly greater than normal in NS (P = .007) but not in S (P = .702) patients. SNA, SNB, and SNPg were not significantly different between groups. In both groups, mandibular length was short (P = .00), especially in S patients (P = .049), mandibular body was small (NS, P = .00; S, P = .00), and the gonial angle more obtuse (NS, P = .006; S, P = .000) than normal. Ramus length was significantly shorter than normal only in S patients (P = .019). Mandibular length (TmPg) was smaller than normal in all S subgroups but with wide variability. There were statistically significant differences among S subgroups with respect to mandibular sagittal position (SNB, P = .00; SNPg, P = .00) and mandibular length (TmPg, P = .008). There were no differences in S subgroups with respect to age, SNA, ArGo, GoPg, and ArGoPg. CONCLUSION: Mandibular morphology and position are variable in Robin sequence, based on the presence and type of associated syndromic diagnosis.

Cleft palate in Pfeiffer syndrome.

The frequency of associated cleft palate is known to be high in some fibroblast growth factor receptor 2 (FGFR2)-mediated craniosynostosis syndromes, such as Apert syndrome. However, there is little information on the frequency of palatal clefts in the FGFR2-mediated disorder, that is, Pfeiffer syndrome. The purpose of this study was to determine the frequency of palatal clefts in patients with Pfeiffer syndrome. The records of patients with Pfeiffer syndrome managed in our craniofacial unit were reviewed. Only patients with a confirmed diagnosis of Pfeiffer syndrome were included. Diagnostic criteria were as follows: characteristic mutations in FGFR1 or FGFR2 or, in the absence of genetic testing, clinical findings consistent with Pfeiffer syndrome as determined by a clinical geneticist or our most experienced surgeon (J.B.M.). Only 2 clefts were noted in 25 patients (8%), including 1 with a submucous cleft and 1 with an overt palatal cleft. Many patients (87%) were described as having a high-arched and narrow palate, and 1 had a low, broad palate. Nine patients were noted to have choanal atresia or stenosis. Clefting of the palate does occur in Pfeiffer syndrome but at a low frequency.

Increased prevalence of left-handedness in hemifacial microsomia.

Ten percent of people are left handed, but a higher frequency has been associated with certain craniofacial malformations, such as cleft lip and unilateral coronal synostosis. The purpose of this study was to determine the frequency of left-handedness in patients with hemifacial microsomia (HFM). Patients with HFM were identified in our craniofacial database. Normal controls were recruited by local pediatricians. Data gathered included age, sex, and handedness (determined by writing and/or drawing); the orbit, mandible, ear, nerve, and soft tissue (OMENS)-plus score and side of involvement were tabulated for patients with HFM. Hand preference was compared between the groups using chi analysis; possible correlations were analyzed between handedness and age, sex, the OMENS score, extracraniofacial findings, and side of involvement. One hundred seventy-eight patients with HFM were identified; 92 (51%) were excluded. Of the 86 included, 48% were boys (n = 47) and the mean age at inquiry was 13.5 years. Predominant side of involvement was right in 49% (n = 42) and left in 38% (n = 33). Eleven patients (13%) had severe involvement of both sides. Expanded-spectrum HFM was documented in 41% of patients. Ninety-six children were in the control group; 44% were boys (n = 42), and the mean age was 10 years. The difference in age between the groups was significant (P < 0.05), but sex differences were not. Patients with HFM were more likely to be left handed for writing compared with the control group (26% vs. 11%; P < 0.05). The frequency was higher, 36%, in those with bilateral involvement (P > 0.05). There was no correlation with predominant side or OMENS score. This study confirms that this disorder affects cerebral lateralization.

Palatoplasty outcomes in nonsyndromic patients with cleft palate: a 29-year assessment of one surgeon's experience.

The primary objective of cleft palate repair is velopharyngeal competence without fistula. The reported incidence of fistula and velopharyngeal insufficiency (VPI) is variable. Our purpose was to assess the senior surgeon's 29-year palatoplasty experience with respect to incidence of fistula and VPI. Our hypotheses were that VPI is related to (1) age at palatoplasty, (2) cleft palate type, and (3) VPI and palatal fistula incidence decrease with the surgeon's experience. We reviewed the records of all children with cleft palate treated by the senior author between 1976 and 2004. Cleft palate was categorized according to Veau. Palatoplasty was performed on 449 patients, using a 2-flap technique with muscular retropositioning. The mean age at palatoplasty was 11.6 +/- 4.9 months (range, 7.0-46.4 months). The incidence of palatal fistula was 2.9%, and velopharyngeal sufficiency was found in 85.1% of patients. We found a significant association between age at palatoplasty and VPI (P = 0.009, odds ratio, 1.06 [95% confidence interval, 1.02-1.10]). Velopharyngeal insufficiency was also associated with the Veau hierarchy (P = 0.001). Incidence of VPI was independent of surgeon experience (P = 0.2). In conclusion, the incidence of palatal fistula was low. Velopharyngeal insufficiency was associated with increasing age at palatoplasty and with the Veau hierarchy.