Long-term Follow-up of Bilateral Cleft Lip and Palate: Incidence of Speech-Correcting Surgeries and Fistula Formation.

While bilateral cleft lip and palate (BCLP) constitutes a clinical challenge for the whole cleft team, the ideal surgical protocol remains obscure. This study presents the long-term burden of care in terms of secondary surgeries, defined as fistula repair and speech-correcting surgeries (SCS), in a single center. Outcomes of two surgical protocols utilized over the years were also compared.A retrospective single-center analysis of 81 non-syndromic children with complete BCLP born between 1990 and 2010. Two surgical protocols comprising single-stage and two-stage (delayed hard palate closure) procedures were compared. Outcome was analyzed at the time of alveolar bone grafting (ABG) and post-ABG.Altogether 54 children (66.7%) had underwent secondary surgery by the time of bilateral ABG. At this point, 38.3% (n = 31) of patients had received SCS and 49.4% (n = 40) had undergone fistula repair. The corresponding incidences at the end of follow-up were 46.9% (n = 38) and 53.1% (n = 43). No significant difference emerged in SCS incidence between the 2 protocols; however, prior to ABG the single-stage protocol had a significantly lower need for fistula repair. Regarding the location of fistulas, some differences were observed, with the single-stage procedure more associated with anterior fistulas.BCLP has a high surgical burden of care in terms of secondary surgeries, defined as SCS and fistula repair. In our experience, the single-stage protocol, particularly the two-flap technique, offers better results in the management of BCLP than the two-stage approach with a short delay in hard palate closure.

Palatal Re-Repair With Z-Plasty in Treatment of Velopharyngeal Insufficiency of Syndromic and Nonsyndromic Patients With Cleft Palate.

BACKGROUND: Velopharyngeal insufficiency (VPI) often results from palatal shortening or insufficient levator function after cleft palate repair. AIMS: To assess the efficacy of palatal re-repair with Z-plasty in treatment of VPI for patients with isolated cleft palate (ICP). METHODS: This retrospective analysis comprised 130 consecutive patients who had ICP with VPI that required Z-plasty as secondary surgery between 2008 and 2017. Pre- and post-operative evaluation of velopharyngeal function was done perceptually and instrumentally by Nasometer. RESULTS: Median patient age at Z-plasty was 6.8 years (range 3.0-20.1). Of the 130 patients, preoperatively VPI was severe in 73 (56%), mild-to-moderate in 55 (42%), and borderline in 2 (2%). Postoperatively, 105 (81%) of patients achieved adequate (normal or borderline) velopharyngeal competence and 16 (12%) required second operation for residual VPI. The success rate was 84% in nonsyndromic patients, 79% in nonsyndromic Pierre Robin sequence patients, and 58% in syndromic patients. In syndromic children, the speech outcome was significantly worse than in nonsyndromic children (P = 0.014). Complications included wound healing problems in 3 patients (2%), mild infection in 1 patient (1%), postoperative bleeding in 1 (1%), and postoperative fistula in 2 (2%). CONCLUSION: Palatal re-repair with Z-plasty is a safe operation for VPI correction in patients with ICP with a success rate of 81%. In syndromic patients, the procedure did not seem to work as well as in nonsyndromic patients.

Palatal Re-Repair With Double-Opposing Z-Plasty in Treatment of Velopharyngeal Insufficiency of Patients With Unilateral Cleft Lip and Palate.

BACKGROUND: Velopharyngeal insufficiency (VPI) is a common problem after cleft palate repair that is often related to palatal shortening and insufficient levator reconstruction. For VPI correction in our cleft center, palatal re-repair with double-opposing Z-plasty is the standard operation. AIMS: To assess the efficacy of double-opposing Z-plasty in treatment of VPI after primary surgery for unilateral cleft lip and palate (UCLP). METHODS: This retrospective analysis comprised 109 consecutive UCLP patients born between 1997 and 2014 with VPI that required re-operation, and were operated on by 2 highvolume cleft surgeons, followed by perceptual and instrumental (Nasometer) evaluation of velopharyngeal competence (VPC). RESULTS: Preoperatively, VPI was severe in 96% (105 of 109) and mild-to-moderate in 4% (4 of 109). Median age at surgery was 5.6 years (range 2.8-21.9). Postoperatively, 84% of patients achieved adequate VPC: 65% (71 of 109) were competent and 19% (21 of 109) borderline competent. Postoperative adequate VPC was 89% (70 of 79) in nonsyndromic Finnish patients, 50% (4 of 8) in syndromic patients, and 82% (18 of 22) in adoption children. Compared to Finnish nonsyndromic patients, patients with syndrome had more residual VPI (P = 0.003), but no statistically significant difference existed for adoption patients (P = 0.251). Complications of the double-opposing Z-plasty included hemorrhage, postoperative mild airway obstruction, and wound-healing problems, each arising in 2 (1.8%) patients. Fourteen (13%) patients needed a second VPI operation. CONCLUSION: Double-opposing Z-plasty seems to be a good and safe treatment option for VPI in patients with previously repaired UCLP with a success rate of 84%.

Speech of Patients With Unilateral Complete Cleft Lip and Palate: Comparison of Three Different Surgical Protocols for Primary Repair.

BACKGROUND AND AIMS: Between 1997 and 2014, 3 protocols have been used in out cleft unit for primary repair of unilateral cleft lip and palate. During the Scandcleft randomized controlled trial closing the soft palate and lip at 4 months and the hard palate at 12 months (Protocol 1) was compared with closing the entire palate at 12 months (Protocol 2). Protocol 3 comprises closure of the lip and hard palate with a vomer flap at 4 months and the soft palate at 10 months. The purpose of this study was to compare subsequent velopharyngeal competence at age of 3 and 5 years. PATIENTS AND METHODS: The study consisted of 160 non-syndromatic patients with a unilateral cleft lip and palate. Protocol 3 was retrospectively compared with Protocols 1 and 2 within the previously published Scandcleft study. RESULTS: At 3 years of age, normal or borderline competent velopharyngeal function was found in 68% of patients in Protocol 1, 74% of patients in Protocol 2, and 72% of patients in Protocol 3. At 5 years of age, the corresponding figures were 84%, 82%, and 92%. 21% of patients in Protocol 1, 4% in Protocol 2, and 23% in Protocol 3 had palatal reoperations before the age of 5 years. CONCLUSION: No significant differences emerged in velopharyngeal competence at age 3 years between the 3 protocols. Palatal reoperations were performed earlier in patient groups 1 and 3, explaining the difference in the velopharyngeal competence rate at the 5-year time-point.

Scandcleft Project Trial 2-Comparison of Speech Outcome in 1- and 2-Stage Palatal Closure in 5-Year-Olds With UCLP.

OBJECTIVE: To investigate in-depth speech results in the Scandcleft Trial 2 with comparisons between surgical protocols and centers and with benchmarks from peers without cleft palate. DESIGN: A prospective randomized clinical trial. SETTING: Two Swedish and one Finnish Cleft Palate center. PARTICIPANTS: One hundred twelve participants were 5-years-old born with unilateral cleft lip and palate randomized to either lip repair and soft palate closure at 4 months and hard palate closure at 12 months or lip repair at 3 to 4 months (Arm A), or a closure of both the soft and hard palate at 12 months (Arm C). MAIN OUTCOME MEASURES: A composite measure dichotomized into velopharyngeal competency (VPC) or velopharyngeal incompetency (VPI), overall assessment of velopharyngeal function (VPC-Rate), percentage of consonants correct (PCC score), and consonant errors. In addition, number of speech therapy visits, average hearing thresholds, and secondary surgeries were documented to assess burden of treatment. RESULTS: Across the trial, 53.5% demonstrated VPC and 46.5% VPI with no significant differences between arms or centers. In total, 27% reached age-appropriate PCC scores with no statistically significant difference between the arms. The Finnish center had significantly higher PCC scores, the Swedish centers had higher percentages of oral consonant errors. Number of speech therapy visits was significantly higher in the Finnish center. CONCLUSION: At age 5, poor speech outcomes with some differences between participating centers were seen but could not be attributed to surgical protocol. As one center had very few participants, the results from that center should be interpreted with caution.

Incidence of Speech-Correcting Surgery in Children With Isolated Cleft Palate.

OBJECTIVE: Speech-correcting surgeries (pharyngoplasty) are performed to correct velopharyngeal insufficiency (VPI). This study aimed to analyze the need for speech-correcting surgery in children with isolated cleft palate (ICP) and to determine differences among cleft extent, gender, and primary technique used. In addition, we assessed the timing and number of secondary procedures performed and the incidence of operated fistulas. DESIGN: Retrospective medical chart review study from hospital archives and electronic records. PARTICIPANTS: These comprised the 423 consecutive nonsyndromic children (157 males and 266 females) with ICP treated at the Cleft Palate and Craniofacial Center of Helsinki University Hospital during 1990 to 2016. RESULTS: The total incidence of VPI surgery was 33.3% and the fistula repair rate, 7.8%. Children with cleft of both the hard and soft palate (n = 300) had a VPI secondary surgery rate of 37.3% (fistula repair rate 10.7%), whereas children with only cleft of the soft palate (n = 123) had a corresponding rate of 23.6% (fistula repair rate 0.8%). Gender and primary palatoplasty technique were not considered significant factors in need for VPI surgery. The majority of VPI surgeries were performed before school age. One fifth of patients receiving speech-correcting surgery had more than one subsequent procedure. CONCLUSION: The need for speech-correcting surgery and fistula repair was related to the severity of the cleft. Although the majority of the corrective surgeries were done before the age of 7 years, a considerable number were performed at a later stage, necessitating long-term observation.

Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 2. Surgical results.

BACKGROUND: Longstanding uncertainty surrounds the selection of surgical protocols for unilateral cleft lip and palate, and randomised trials have only rarely been performed. The Scandcleft Project consists of three trials commenced in 1997 involving ten centres in Denmark, Finland, Norway, Sweden, and the UK. Three groups of centres tested a newly-defined common technique for palatal repair (Arm A) against their local protocols (Arms B, C, D). Arm A was familiar to most of the surgeons in Trial 1, but not to the surgeons in the other Trials. AIM: To evaluate surgical events and complications of the 448 (293 boys, 155 girls) patients with complete unilateral cleft lip and palate (UCLP) enrolled in the three trials. METHOD: The three trials were carried out in parallel in adherence with a fully developed, ethically approved protocol. Operative time, bleeding, complications, and major dehiscence during and after both primary surgeries were recorded by the surgeon. Rates of fistula and surgery for velopharyngeal incompetence (VPI) were assessed until the youngest patient of the study had reached the age of 9 years. Pearson Chi-square statistical analysis was used to compare the outcomes. RESULTS: No significant differences in bleeding, infection, anaesthetic complications or length of hospital stay between the different arms were found for Trial 1. However, in Trials 2 and 3 there were more airway problems in Arm A than with the traditional local protocols (Arms C or D). In Trial 3 fistula and VPI surgery rates were also higher in Arm A. CONCLUSIONS: The results do not provide statistical evidence that any technique is better than others, but indicate that surgery was more problematic for surgeons who were still gaining experience with an unfamiliar surgical protocol. TRIAL REGISTRATION: ISRCTN29932826.

A Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 1. Planning and management.

BACKGROUND AND AIMS: Longstanding uncertainty surrounds the selection of surgical protocols for the closure of unilateral cleft lip and palate, and randomised trials have only rarely been performed. This paper is an introduction to three randomised trials of primary surgery for children born with complete unilateral cleft lip and palate (UCLP). It presents the protocol developed for the trials in CONSORT format, and describes the management structure that was developed to achieve the long-term engagement and commitment required to complete the project. METHOD: Ten established national or regional cleft centres participated. Lip and soft palate closure at 3-4 months, and hard palate closure at 12 months served as a common method in each trial. Trial 1 compared this with hard palate closure at 36 months. Trial 2 compared it with lip closure at 3-4 months and hard and soft palate closure at 12 months. Trial 3 compared it with lip and hard palate closure at 3-4 months and soft palate closure at 12 months. The primary outcomes were speech and dentofacial development, with a series of perioperative and longer-term secondary outcomes. RESULTS: Recruitment of 448 infants took place over a 9-year period, with 99.8% subsequent retention at 5 years. CONCLUSION: The series of reports that follow this introductory paper include comparisons at age 5 of surgical outcomes, speech outcomes, measures of dentofacial development and appearance, and parental satisfaction. The outcomes recorded and the numbers analysed for each outcome and time point are described in the series. TRIAL REGISTRATION: ISRCTN29932826.

Craniofacial morphology in children with van der Woude syndrome and isolated cleft palate.

OBJECTIVE: To compare cephalometrically 6-year-old children with van der Woude syndrome and cleft palate (VWS) to children with isolated cleft palate alone (CP). DESIGN: A retrospective case-control study. PATIENTS AND SETTING: Forty-four children with VWS were compared to 73 children with CP using lateral cephalograms. The mean age of the children with VWS was 6.6 years (range = 5.9-8.2) and that of the children with CP, 6.2 years (range = 5.7-6.7). Palatal closure had been done at a mean age of 1.4 years (range = 0.8-2.2), mostly with the Veau-Wardill-Killner or the Cronin pushback surgical techniques. The data was collected over a 30-year period. MAIN OUTCOME MEASURE: Linear and angular measurements were obtained from lateral cephalograms. A Student's t-test was used in the statistical analysis. RESULTS: The craniofacial morphology in children with VWS and CP was similar, but those with VWS had slightly smaller diameters of the lower pharyngeal airway. The maxilla and mandible were well related to each other, although a little retrusive in relation to the cranial base. The soft tissue profile reflected the skeletal relationships, no significant protrusion of the lower lip was noted. CONCLUSIONS: Six-year-old children with VWS and CP have similar craniofacial morphology.

Cleft Lip and/or Palate and Auricular Malformations.

OBJECTIVE: To study the relationship between cleft lip and/or palate and auricular malformations in Finnish patients with cleft. DESIGN: Retrospective analysis of patients with an external ear malformation and either a cleft lip with or without a cleft palate (CL±P) or an isolated cleft palate (CP). SETTING: Tertiary referral clinic. PATIENTS: Review of hospital records of 100 patients from the register of 8200 patients with cleft in the Cleft and Craniofacial Centre at the Helsinki University Central Hospital. MAIN OUTCOME MEASURES: Proportions of variable auricular malformations among CL±P and CP patients. RESULTS: Microtia is the most common auricular malformation among patients with cleft and is almost equally prevalent with both CL±P and CP. The prevalence of microtia increases as the severity of CL±P increases. The combination of microtia and CL±P or CP is frequently found with both oculo-auriculo-vertebral spectrum and Treacher Collins syndrome. CONCLUSIONS: Microtia seems to be the most common auricular malformation among patients with cleft. The prevalence of microtia seems to increase as the severity of CL±P increases, whereas in isolated CP microtia seems to occur independently.

Cone beam computed tomography in the assessment of alveolar bone grafting in children with unilateral cleft lip and palate.

OBJECTIVES: To quantify the treatment outcome of secondary alveolar bone grafting (SABG) in individuals with unilateral cleft lip and palate using cone beam computed tomography (CBCT) and to reveal needs for improvement in surgical technique. MATERIAL AND METHODS: CBCT images taken 6 months after SABG of 35 patients were analysed. Vertical and horizontal bone supports of the grafted bone at three levels of the roots of the adjacent teeth were classified, the height of the nasal floor was compared with the unaffected side, and the inter- and intraexaminer reproducibility of these evaluations was assessed. RESULTS: The grafted bone filled the defect in all three vertical measurement levels in 34 per cent. The labiopalatal thickness of the grafted bone was good in at least one-third of the root length in 66 per cent and fair in 34 per cent. Typically, the bone graft was deficient in the apical and palatal direction. Clear asymmetry in the nasal floor was found in 72 per cent. Kappa values indicated excellent agreement for all but one measured parameter. LIMITATIONS: This is a preliminary study involving only a limited number of study subjects. CONCLUSIONS: Our results showed mainly a good or fair treatment outcome. Deficiency of the bone graft was observed mostly in the apical and palatal areas of the defect. Asymmetry of the nasal floor was observed frequently. Careful insertion of the bone graft towards the palatal and apical direction of the cleft is recommended.

Anterior crossbite, dental arch dimensions, and later need for orthognathic surgery in 6-year-old children with unilateral cleft lip and palate.

Objective : Six-year-old children with unilateral cleft lip and palate were examined to compare the prevalence of anterior crossbite and dental arch dimensions of those who later needed orthognathic surgery with the prevalence of those who did not. Design : Retrospective longitudinal study. Patients : A total of 68 consecutive nonsyndromic patients with unilateral cleft lip and palate (44 boys, 24 girls). Main Outcome Measures : Children with unilateral cleft lip and palate whose palates had been closed in one stage by the Veau-Wardill-Kilner or Cronin-Brauer V-Y pushback techniques were analyzed from dental casts taken at a mean age of 6.1 years (range, 5.7 to 6.8 years) before orthodontic treatment or bone grafting. The need for orthognathic surgery in these patients was determined from hospital records at the mean age of 18.2 years (range, 15.6 to 20.2 years). Student's t test and chi-square test were used in statistical analyses. Results : The prevalence of anterior crossbite was 62% (one or both central incisors in full crossbite). The prevalence was higher (75% versus 53%) in children later needing orthognathic surgery (28 of 68, 41%), but the difference was not significant. Nor were there significant differences in dental arch measurements between children who later needed osteotomies and those who did not or between the two modifications of the primary palatal pushback operations. Conclusions : The prevalence of anterior crossbite and the dental arch dimensions did not differ between 6-year-old children with unilateral cleft lip and palate who later needed orthognathic surgery and those who did not.

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.

Mutations in interferon regulatory factor 6 (IRF6) account for ∼70% of cases of Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate. In 8 of 45 VWS-affected families lacking a mutation in IRF6, we found coding mutations in grainyhead-like 3 (GRHL3). According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations. In mouse, all embryos lacking Grhl3 exhibited abnormal oral periderm and 17% developed a cleft palate. Analysis of the oral phenotype of double heterozygote (Irf6(+/-);Grhl3(+/-)) murine embryos failed to detect epistasis between the two genes, suggesting that they function in separate but convergent pathways during palatogenesis. Taken together, our data demonstrated that mutations in two genes, IRF6 and GRHL3, can lead to nearly identical phenotypes of orofacial cleft. They supported the hypotheses that both genes are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS.

Aesthetics of the auricle and its implications for otoplasty and auricular reconstruction.

OBJECTIVE: Otoplasty is the most common aesthetic surgical procedure performed in children. The goals for auricular surgery and the proportions of an aesthetically pleasing ear appear to be based on the aesthetic opinions of individual surgeons rather than on evidence-based data. Our study aimed to determine whether identifying an aesthetically pleasing auricle is possible. METHODS: We used digital photographs of 29 auricles, a standardized camera setup, a panel of 20 plastic surgeons, and a visual analogue scale (VAS). We then analyzed the scores assigned by the panel for mean, median, standard deviation, analysis of variance, Tukey-Kramer Multiple Comparison Test, and Top 5 rankings. RESULTS: Ranking by the panel was statistically significant (p<0.000001). CONCLUSIONS: It is possible to statistically rank the aesthetics of auricles, although it is difficult to identify the structural details that made an auricle aesthetically pleasing.

Early placement of ventilation tubes in cleft lip and palate patients: does palatal closure affect tube occlusion and short-term outcome?

OBJECTIVES: Otitis media with effusion is almost universal in children with cleft palate due to the poor function of the Eustachian tube. Our study investigates the functioning of ventilation tubes placed at the time of primary cleft surgery (4 months of age) and at the time of secondary surgery (12 months of age). We compared two different surgical protocols: (Leg A) closure of the lip and soft palate at the age of 3-4 months (primary surgery) and closure of the hard palate at the age of 12 months (secondary surgery), and (Leg C) closure of the lip at the age of 3-4 months (primary surgery) and closure of the hard and soft palate at the age of 12 months (secondary surgery). METHODS: A retrospective review of the medical records of 97 Finnish children with unilateral cleft lip and palate (UCLP) included in the Scandcleft study and randomized into two groups. RESULTS: The majority (63%) of cleft (lip and) palate children benefit from early placement of ventilation tubes, and this group is even larger with early closure of the soft palate (86%; p=0.02). Closure of the soft palate at four months of age also reduces the frequency of OME in ears with the tube extruded or occluded, thus indicating better function of the Eustachian tube (p=0.02). CONCLUSIONS: Early tympanostomy tube placement should be considered in children with cleft lip and palate, even prior to palatal closure.

Gelsolin amyloidosis as a cause of early aging and progressive bilateral facial paralysis.

BACKGROUND: Gelsolin amyloidosis, or Meretoja disease, is a dominantly inherited syndrome in which the collection of amyloid leads to early aging, bilateral progressive facial paralysis, and corneal lattice dystrophy. Characteristically, the major symptoms appear in the fifth decade of life, with brow ptosis and blepharochalasis, drooping of the facial tissues, and oral disturbances. Indications and methods, as well as the results of plastic surgical treatment, seem varied. To better understand and operate on this challenging group of patients, the authors evaluated the surgical experience of their department. METHODS: From the surgical database, all patients operated on in the authors' department for gelsolin amyloidosis from 1986 to 2004 were included. Disease severity was evaluated, together with data on the course of surgery, complications, and results. RESULTS: During 1986 through 2004, 35 gelsolin amyloidosis patients underwent surgery, totaling 67 operations and 95 procedures; 89 percent consulted a plastic surgeon for brow ptosis or blepharochalasis, 15 percent for problems in oral function, and 21 percent for ocular dryness or corneal ulcers. Total bilateral forehead palsy was noted in 63 percent, total unilateral palsy in 14 percent, and weakness of the frontal branch in 23 percent. The buccal branch was affected in 40 percent. Postoperative complications were observed in 31 percent and minor complaints in 60 percent. Two-thirds, however, seemed satisfied with the results. The majority required reoperations. CONCLUSIONS: Operative treatment of gelsolin amyloidosis is symptomatic. Due to relentless disease progression, a good functional and aesthetic result seems to require selected techniques and repeated surgery. Recognizing this underdiagnosed syndrome is essential.

A comparison of craniofacial cephalometric morphology and the later need for orthognathic surgery in 6-year-old cleft children.

OBJECTIVES: To compare 6-year-old children with unilateral cleft lip and palate (UCLP) and children with unilateral cleft lip and a separate cleft palate (CL+CP), cephalometrically and to evaluate the need for orthognathic surgery of these children in later life. MATERIALS AND METHODS: One hundred and seven cleft children (67 UCLP, 40 CL+CP) were compared retrospectively using lateral cephalograms taken at a mean age of 6.2 years (range 5.7-7.3). The need for maxillary or bimaxillary osteotomies in these patients was evaluated from the hospital records at the mean age of 18.1 years (range 15.6-20.5). RESULTS: The craniofacial morphology of children with UCLP and CL+CP was similar except for a more retrusive maxilla in children with UCLP. The frequency of orthognathic surgery was 40% (27/67) in the UCLP group and 18% (7/40) in the CL+CP group. The patients who needed orthognathic surgery (UCLP and CL+CP combined) had smaller mean values of ANB angle at the age of 6 years when compared to those who did not (1.8 versus 3.9°). None of the children whose ANB angle was greater than 4.5 needed orthognathic surgery whereas all the children whose ANB angle was less than -1 needed osteotomies. CONCLUSION: Six-year-old children with UCLP have more retruded maxillae and require orthognathic surgery later in life more often than the children with CL+CP.

[Treatment of cleft lip and palate in Finland]. / Huuli- ja suulakihalkioiden hoidon suuntaviivoja.

In Finland about 120 babies are born with cleft lip and palate per year. The largest group is those with isolated cleft palate (60%) and only one fourth have complete cleft lip and palate. The clefts are closed under one year of age. Clefts affect appearance, occlusion and speech and the final outcome can only be assessed at the end of the growth. Centralisation of services and a multidisciplinary team approach has a bigger influence on the final outcome than different treatment protocols, the comparative advantages of which remain unproven. Good documentation is important to assess the level of treatment outcomes.

Chromosomal abnormalities in Finnish orofacial cleft patients: excess of submucous cleft patients?

OBJECTIVE: The aim was to identify chromosomal regions possibly involved in the development of orofacial clefts and to compare syndromic cleft phenotypes with previous reports. DESIGN: We have retrospectively gathered and analyzed chromosomal aberrations and phenotypes of Finnish cleft patients treated at the Cleft and Craniofacial Centre, Helsinki University Central Hospital. SETTING: The study was carried out at the Cleft and Craniofacial Centre, Helsinki University Central Hospital. PATIENTS: The cleft register contains information on about 7600 Finnish cleft patients. MAIN OUTCOME MEASURES: Identification of patients for further molecular analyses and identification of chromosomal regions associated with orofacial clefting. RESULTS: We identified 37 cleft patients with chromosomal aberrations of putative research interest. CONCLUSIONS: We were able to efficiently select patients for further molecular analyses and identify chromosomal regions that might be associated with orofacial clefting. The percentage of submucous cleft patients among cleft patients with chromosomal aberrations was unexpectedly high.

Embryology and epidemiology of microtia.

The auricle derives from six hillocks arising from the first and second branchial arches. Different hillocks give rise to different parts of the pinna. In the course of embryonic development, the auricle migrates postero-cranially as the mandible enlarges. Auricular malformations, such as microtia, are thought to be related to cell death of the first and second arch derivatives. The prevalence and characteristics of microtia vary in different populations. The prevalence ranges from 0.83 to 17.4 per 10,000. Microtia is more common in males, and right-sided dominance varies from 57 to 67%. The prevalence of aural atresia or stenosis varies from 55 to 93%. Microtia has been associated with numerous risk factors including race and gender. Genetic factors are likely to have an effect at least in some patients with microtia.