Evaluation of maxillary arch symmetry in cleft patients undergoing orthodontic treatment: a comparative study.

OBJECTIVE: Patients with a cleft require structured procedures to achieve feasible treatment results. Since many treatment protocols coexist without being superior to one another, this study investigated the Saarland University Hospital treatment concept for patients with unilateral and bilateral clefts to evaluate its effects upon dental arch dimensions until the early mixed dentition. MATERIAL AND METHODS: Digitized plaster models were used for data collection. Records of 83 patients (Cleft n = 41 [UCLP n = 28, BCLP n = 13], Non-Cleft Control n = 42) comprised 249 casts. The evaluation included established procedures for measurements of edentulous and dentate jaws. Statistics included Shapiro-Wilk, Friedmann, Wilcoxon and Mann-Whitney-U-Tests for the casts. The level of significance was set at p < 0.05. RESULTS: The cast analysis showed an approximation of arch dimensions towards those of age-matched patients without a cleft until early mixed dentition. The mean values of patients with and without cleft lip and palate were almost indistinguishable when compared in primary and/or early mixed dentition. CONCLUSIONS: The evaluated treatment concept leads to feasible outcomes regarding dental arches in patients with unilateral and bilateral clefts compared to an age-matched non-cleft control. CLINICAL RELEVANCE: The evaluated treatment concept leads to favorable outcomes until early mixed dentition.

Investigation of the effectiveness of articulation therapy through tele-practice on children with cleft palate in Khuzestan Province during COVID-19 pandemic.

INTRODUCTION: A cleft palate is a common type of facial malformation. Compensatory articulation errors are one of the important causes of unclear speech in children with cleft palate. Tele-practice (TP) helps to connect therapists and clients for assessment and therapy. Our goal is to investigate the effectiveness of articulation therapy through tele-practice on cleft palate children in Khuzestan Province during the COVID-19 pandemic. MATERIALS & METHODS: Before starting the treatment, a 20-min speech sample was recorded individually from all the children. Speech intelligibility and the percentage of correct consonants were assessed for each speech sample. The control group received treatment sessions in person at the cleft palate center, and the other group received treatment via tele-practice using the ZOOM platform. Treatment sessions were provided in the form of 45-60-min group sessions, twice a week, for 5 weeks (10 sessions in total). After 10 treatment sessions, the speech sample was recorded again. The level of parental satisfaction was measured using a Likert 5-level survey. RESULTS: The mean score of intelligibility of the two groups decreased (-1.4400 and 0.7200). The two groups' mean percentage of correct consonants increased. (26.09 and 17.90). In both groups, the mean score of parents' satisfaction with the treatment was high (3.44 and 3.84). The mean of difference before and after the speech intelligibility and the percentage of correct consonants variables in both groups was statistically significant (P = 0.001 and P = 0.002, respectively). In both groups, the satisfaction variable was not associated with a statistically significant difference (P = 0.067). CONCLUSION: The effectiveness of in-person therapy over a certain period of time is higher than tele-practice. Nevertheless, the results demonstrated an increase in the intelligibility of speech and the percentage of correct consonants in both groups, thus proving the effectiveness of articulation therapy in correcting compensatory articulation errors in children with cleft palate through in-person and tele-practice.

Mandibular condyle volumes are associated with facial asymmetry in patients with cleft lip and palate: A retrospective cohort study.

This study compares condylar volumetric asymmetry and facial asymmetry in patients with cleft lip and/or palate (CLP) and controls. The mandibular condyle is important to facial growth, but its role in facial asymmetry for those with CLP has not been described. Condylar volumes and mandibular asymmetry were retrospectively calculated using Mimics Version 23.0 (Materialise, Leuven, Belgium) from patients with CLP undergoing computed tomography (CT) imaging and a cohort of controls. A total of 101 participants, 60 with CLP and 41 controls, had mean condylar volumetric asymmetry of 16.4 ± 17.4 % (CLP) and 6.0 ± 4.0 % (controls) (p = 0.0002). Patients with CLP who had clinically significant chin deviation (>4 mm) had more asymmetric condyles than those without significant chin deviation (p = 0.003). The chin deviated toward the smaller condyle in patients with facial asymmetry more often than in patients without facial asymmetry (81 % vs. 62 %, p = 0.033). While controls had some degree of condylar asymmetry, it tended to be milder and not associated with facial asymmetry. There is a greater degree of condylar volumetric asymmetry in patients with CLP compared to individuals in the general population. Clinically significant facial asymmetry in CLP is associated with a higher degree of condylar asymmetry, with the facial midline deviating toward the smaller condyle.

Improvement in nasal airway obstruction after secondary rhinoplasty for cleft lip: A systematic review.

BACKGROUND: The purpose of the study was to comprehensively review the improvement in nasal airway obstruction after secondary rhinoplasty for cleft lip. METHODS: The search was conducted on PubMed, Embase, and Scopus databases for relevant studies published within the past twenty years. Inclusion criteria encompassed patients undergoing secondary rhinoplasty with cleft lip nasal deformity and some evaluation of the nasal outcome. RESULTS: A thorough analysis of available studies identified 29 articles that met the inclusion criteria for final assessment. Seven (24.1%) studies were classified as Therapeutic Ⅱ (T II) according to the American Society of Plastic Surgeons level of evidence scale, while the majority were categorized as T III (17.2%), T IV (51.7%), and T V (6.9%). Subjective methods were employed in 21 articles to measure nasal ventilation outcomes, whereas 8 studies utilized objective methods. Overall findings from all included studies consistently indicated an improvement in nasal ventilation post-surgery. CONCLUSIONS: Although there is no consensus regarding the impact of secondary rhinoplasty on nasal airway obstruction in cleft lip patients, this review suggests that it can effectively alleviate such obstructions. We conducted an anatomical analysis to investigate the impact of various surgical techniques on nasal ventilation to provide recommendations for postoperative ventilation assessment.

Surgical treatment of velopharyngeal dysfunction: Incidence and associated factors in the Swedish cleft palate population.

INTRODUCTION: Speech in children with cleft palate can be affected by velopharyngeal dysfunction, which persists after primary palate repair. The incidence of surgery to correct velopharyngeal dysfunction in this patient group has previously been reported as 2.6-37%. We aimed to investigate the incidence of velopharyngeal dysfunction surgery in Swedish children with cleft palate and to examine potential associations of independent variables with this incidence. METHODS: In this cohort study, we analysed data from the Swedish cleft lip and palate quality registry for 1093 children with cleft palate with or without cleft lip. Kaplan-Meier analysis was used to estimate the risk of having velopharyngeal dysfunction surgery. Multivariable Cox proportional hazards models were used to estimate the associated effect of cleft subtype, additional diagnoses, gender, and age at and number of stages for primary palate repair on the primary outcome. RESULTS: The risk of having velopharyngeal dysfunction surgery was 25.6%. Complete primary palate repair after the age of 18 months or in more than one stage was associated with a higher risk, but it could not be determined which of these was the more significant factor. Cleft soft palate was associated with a significantly lower risk than other cleft subtypes. CONCLUSIONS: Primary palate repair at a higher age or in more than one stage may increase the risk of having velopharyngeal dysfunction surgery. Further analysis of potential unknown confounding factors and the association between the incidence of velopharyngeal dysfunction and surgery to correct this condition is needed.

The Association of Speech/Language Risk With Phonological Awareness, Rapid Naming, and Reading Ability in Children With Cleft Lip and/or Palate.

Children with cleft lip and/or palate were assessed for speech, language, phonological awareness (PA), rapid naming (RN) and reading ability using standardized instruments at baseline (T1; N = 142, Mage = 6.14 years, 51% males) and 2-year follow-up (T2; 89% retention, Mage = 8.38). Children with no speech or language risk scored higher for T1 and T2 PA, RN, and reading than children with both speech and language risk [Adjusted Mean Difference (AMD) ranged from 11.79 to 21.25]; language risk (AMD 8.37 to 13.58); and speech risk (0.51 to 6.87). No significant differences by cleft type or child sex.

Stem Cell-Based Regenerative Approaches for the Treatment of Cleft Lip and Palate: A Comprehensive Review.

Cleft lip and/or palate (CLP) is a prevalent congenital craniofacial abnormality that can lead to difficulties in eating, speaking, hearing, and psychological distress. The traditional approach for treating CLP involves bone graft surgery, which has limitations, post-surgical complications, and donor site morbidity. However, regenerative medicine has emerged as a promising alternative, employing a combination of stem cells, growth factors, and scaffolds to promote tissue regeneration. This review aims to provide a comprehensive overview of stem cell-based regenerative approaches in the management of CLP. A thorough search was conducted in the Medline/PubMed and Scopus databases, including cohort studies, randomized controlled trials, case series, case controls, case reports, and animal studies. The identified studies were categorized into two main groups: clinical studies involving human subjects and in vivo studies using animal models. While there are only a limited number of studies investigating the combined use of stem cells and scaffolds for CLP treatment, they have shown promising results. Various types of stem cells have been utilized in conjunction with scaffolds. Importantly, regenerative methods have been successfully applied to patients across a broad range of age groups. The collective findings derived from the reviewed studies consistently support the notion that regenerative medicine holds potential advantages over conventional bone grafting and represents a promising therapeutic option for CLP. However, future well-designed clinical trials, encompassing diverse combinations of stem cells and scaffolds, are warranted to establish the clinical efficacy of these interventions with a larger number of patients.

Structural Approach to Secondary Repair of the Unilateral Cleft Lip Nasal Deformity.

SUMMARY: Management of the unilateral cleft lip nasal deformity is complex because of the underlying significant asymmetry of the lower lateral cartilages and soft tissues of the nasal base. Suturing and grafting techniques may leave the patient with residual asymmetries of the nasal tip and nostrils. Some of this residual asymmetry may be attributable in part to the anchoring effect of the vestibular skin attachments to the lower lateral cartilages. This article discusses the use of lateral crural release, repositioning, and support with lateral crural strut grafts to manage the nasal tip. The technique involves freeing the vestibular skin from the undersurface of the lateral crura and domes and placement of lateral crural strut grafts with or without amputation of the ipsilateral dome and lateral crura to allow precise resuturing to the caudal septal extension graft. This technique is coupled with the use of a caudal septal extension graft to stabilize the nasal base and provide a strong foundation for the repair. Treatment of the nasal base may require skeletal augmentation to aid in creating symmetry of the alar insertions. Costal cartilage is needed in most cases to provide adequate structural support. Nuances in technique are discussed to help maximize outcomes.

Chikungunya virus antepartum transmission and abnormal infant outcomes in a cohort of pregnant women in Nigeria.

OBJECTIVES: Chikungunya virus (CHIKV), a reemerging global public health concern, which causes acute febrile illness, rash, and arthralgia and may affect both mothers and infants during pregnancy. Mother-to-child transmission (MTCT) of CHIKV in Africa remains understudied. METHODS: Our cohort study screened 1006 pregnant women with a Zika/dengue/CHIKV rapid test at two clinics in Nigeria between 2019 and 2022. Women who tested positive for the rapid test were followed through their pregnancy and their infants were observed for 6 months, with a subset tested by reverse transcription-polymerase chain reaction (RT-PCR) and neutralization, to investigate seropositivity rates and MTCT of CHIKV. RESULTS: Of the 1006, 119 tested positive for CHIKV immunoglobulin (Ig)M, of which 36 underwent detailed laboratory tests. While none of the IgM reactive samples were RT-PCR positive, 14 symptomatic pregnant women were confirmed by CHIKV neutralization test. Twelve babies were followed with eight normal and four abnormal outcomes, including stillbirth, cleft lip/palate with microcephaly, preterm delivery, polydactyly with sepsis, and jaundice. CHIKV IgM testing identified three possible antepartum transmissions. CONCLUSION: In Nigeria, we found significant CHIKV infection in pregnancy and possible CHIKV antepartum transmission associated with birth abnormalities.

Long-term radiographic and periodontal evaluations of the bone-grafted alveolar cleft region in young adults born with a UCLP.

BACKGROUND: Studies addressing the periodontal health of the teeth surrounding the bone-grafted cleft in patients born with unilateral cleft lip and palate disagree on whether periodontal health is compromised. OBJECTIVES: To determine periodontal health differences between the cleft and the non-cleft sides nearly a decade after secondary alveolar bone grafting. METHODS: This prospective, controlled (split-mouth design) study comprised an intraoral apical radiographic and a periodontal examination of 40 consecutive patients from one centre (n = 26 males) who had undergone bone grafting at mean age of 10.2 years (±1.6). Probing pocket depth, gingival index, gingival recession, and radiographic bone support were assessed. RESULTS: No significant difference occurred in probing pocket depth between teeth at cleft and non-cleft sites (OR 1.8, P = .488). Gingival recession was present at 6.6% of all examined sites on the cleft side and at 1.7% on the non-cleft side (OR 17.3, P < .001). Gingival recession occurred most often on the buccal and disto-buccal surfaces of the central incisor on the cleft side. The gingival index was significantly higher on the cleft side (OR 8.0, P < .001). The Bergland index was I or II in most patients (87%). LIMITATIONS: Recruitment of eligible patients was lengthy. CONCLUSION: The teeth on the cleft side had high levels of gingival inflammation. Few pathological gingival pockets, however, were found. Shallow gingival recessions frequently occurred around the central incisor on the cleft side. Teeth in the bone-grafted cleft region generally had good bone support.

Do Adult Naïve Listeners Perceive Differences in Speech Before and After Therapy for Cleft Palate Speech Disorders? A Reliability Study of Perceptual Speech Ratings.

PURPOSE: This study compared the interrater reliability of adult naïve listeners' perceptual assessments of different speech variables in children with a cleft palate with or without a cleft lip (CP ± L). In addition, the study investigated whether the listeners were able to perceive differences in these speech variables before and after speech therapy for cleft palate speech disorders. METHOD: Thirty-four speech samples of 14 children with a CP ± L (14 samples collected immediately before 10 hr of speech intervention, 14 samples collected immediately after speech intervention, and six randomly selected samples that were duplicated to assess intrarater reliability) were perceptually assessed by 26 adult naïve listeners. The listening panel consisted of nine men and 17 women (age range: 18-51 years). The speech variables included speech understandability, speech acceptability, hypernasality, hyponasality, nasal airflow, and articulation, which were assessed on a visual analog scale. Furthermore, the need for speech therapy was assessed. RESULTS: Good to very good interrater reliability was observed for the naïve listeners' ratings of all speech variables. A significant time effect was found for the pre- and postevolution of the speech variables "speech understandability," "speech acceptability," "nasal airflow," and "articulation." This time effect indicates an improvement of these variables postintervention. According to the naïve listeners, children were less in need of additional speech therapy after the 10-hr intervention period compared to assessments before this intervention period. CONCLUSIONS: Adult naïve listeners perceptually identified an improvement in different speech variables after 10 hr of cleft palate speech therapy. These findings confirm previous assessments of expert speech-language pathologists and suggest that speech improvements after cleft palate speech therapy can also be perceived by communication partners outside the therapy room. Perceptual ratings of naïve listeners can, thus, be used to add life-situation significance to the assessments of experts. Future research could include both expert raters and caregivers or relatives of children with a CP ± L in listening panels, as previous knowledge on craniofacial anomalies may lead to different results.

Dental Rehabilitation of the Unilateral Cleft Dental Gap: A Single Institution Experience With Long-Term Follow-Up.

OBJECTIVE: The purpose of this study was to identify factors associated with the management of the cleft dental gap after alveolar bone grafting. METHODS: This was a retrospective cohort study of patients with unilateral cleft lip and alveolus or palate who had successful alveolar bone grafting. Our primary study outcome was alveolar cleft management (orthodontic closure or space maintenance). Our secondary study outcome was the rate of fixed dental rehabilitation. Univariate comparisons were made with SAS 9.4. RESULTS: The final study sample consisted of 54 patients. Most patients were treated with orthodontic closure (55.6%). Patients missing multiple teeth ( P < 0.01) were less likely to receive orthodontic closure. Orthodontic closure was not associated with differences in intermaxillary midline coincidence ( P = 0.22) or the need for LeFort advancement ( P = 0.15). Only 41.7% of patients who were managed with space maintenance obtained a fixed prosthesis. Hispanic ethnicity ( P < 0.01) and Medicaid insurance ( P < 0.01) were associated with lower rates of fixed dental rehabilitation. CONCLUSIONS: Orthodontic closure was the most common approach, and it did not result in significant maxillary midline distortion. Less than half of patients treated with space maintenance obtained fixed restorations. Socioeconomic barriers are likely preventing access to definitive dental rehabilitation in patients with unilateral cleft lip and alveolus or palate.

Cardiovascular anomalies in patients with Tessier syndrome: a systematic review.

Tessier clefts are skeletal and soft tissue abnormalities of a neonate's facial structures. They could be classified as syndromic and non-syndromic clefts, which can be attributed to disruptions in fetal development and genetic mutations, respectively. Reported cases of these clefts typically document the presence of additional abnormalities associated with these clefts. In this systematic review, we analyzed reports of Tessier clefts accompanied by cardiovascular anomalies, as one of the commonly encountered anomalies. We systematically searched PubMed (MEDLINE), Scopus, Web of Science, Science Direct, and Google Scholar. We selected and included case reports, case series, and case reviews on patients with Tessier cleft and cardiovascular anomalies. The critical appraisal of the included studies was performed by two independent investigators using the Consensus-based Clinical Case Reporting Guideline Development (CARE) checklist. Overall, 20 reports (18 case reports and 2 case series) were eligible for inclusion in this review. Tessier clefts 3 and 30 were the most commonly observed. In addition, the most prevalent cardiovascular anomalies consisted of the ventricular septal defect (VSD), double-outlet right ventricle, and atrial septal defect (ASD). Most of the patients received cosmetic and cardiovascular surgeries. However, some were not proper candidates for cardiovascular surgery because of their unstable condition and therefore did not survive.   Conclusion: Regardless of the focus placed on the cleft and subsequent plastic surgery procedures in these cases, it is important to prioritize other abnormalities that may be associated with mortality. A complete cardiovascular system and associated disorders assessment should be performed before facial cosmetic surgeries. What is Known: • Tessier clefts are congenital defects in the soft tissues and bones of the face and like many other congenital defects, they are accompanied by defects in other parts of the body. • In the current literature, the emphasis is on clefts and the cosmetic issues rather than the coinciding defects, particularly cardiovascular anomalies. What is New: • Review the cardiovascular anomalies that are commonly encountered in patients with Tessier clefts.

Prosthetic rehabilitation of a patient with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome through a hybrid workflow: A case report with 2-year follow-up.

AIM: Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands. Prosthetic rehabilitation of patients with EEC syndrome is essential towards improving their overall quality of life. METHODS AND RESULTS: In the case shown, a telescopic retained overdenture was made on the lower jaw based on digital impression of a patient with EEC syndrome associated with cleft lip and cleft palate. Due to the congenital anomalies and limited mouth opening, the impression was taken with intraoral scanner, and after designing the telescopes on the digital model, the primary and secondary telescopes were confectioned by selective laser sintering. CONCLUSION: Combining digital dental technology and conventional clinical prosthetic treatment methods, results in a well-functioning overdenture even in such complicated situations. The prosthodontic rehabilitation of patients with ECC helps to restore the masticatory and phonetic functions, increases the patient's self-esteem, and prevents further psychological trauma caused by hypodontia.

Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate.

Pai syndrome is described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present the full triad, and most exhibit a wide spectrum of phenotypic variability. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown. In this report, a newborn was presented with congenital nasal septal lipoma, lipoma of the corpus callosum, multiple ventricular septal defect, and additional minor facial dysmorphism. This entity, multiple ventricular septal defect, which has never been reported in PS. Cytogenetic analysis showed normal male 46, XY karyotype. Chromosomal microarray analysis (750 K array) was also unremarkable. This case draws attention with the presence of multiple ventricular septal defect in Pai syndrome and is important in terms of providing phenotypic diversity. To our knowledge, this is also the first genetically evaluated case of Pai syndrome from Turkey.

Anaesthetic management of an infant with cleft palate lateral synechiae syndrome.

An infant with restricted mouth opening from birth had presented for cleft lip repair. He had an interalveolar gap of 6 mm and was diagnosed as a case of cleft palate lateral synechiae syndrome. Fibreoptic bronchoscope of appropriate size was not available at the time of the procedure, and we had to device an alternative plan. The case describes the common challenges that can arise while anaesthetising infants with this syndrome in a resource-limited setting and highlights the importance of adapting the protocol to the demands.

What is the optimal assessment of speech? A multicentre, international evaluation of speech assessment in 2500 patients with a cleft.

OBJECTIVES: Speech problems in patients with a cleft palate are often complex and multifactorial. Finding the optimal way of monitoring these problems is challenging. The International Consortium of Health Outcomes Measurement (ICHOM) has developed a set of standardised outcome measures at specific ages for patients with a cleft lip and/or palate, including measures of speech assessment. This study evaluates the type and timing of speech outcome measures currently included in this ICHOM Standard Set. Additionally, speech assessments in other cleft protocols and initiatives are discussed. DESIGN, SETTING AND PARTICIPANTS: An international, multicentre study was set up including centres from the USA and the Netherlands. Outcomes of clinical measures and Patient Reported Outcome Measures (PROMs) were collected retrospectively according to the ICHOM set. PROM data from a field test of the CLEFT-Q, a questionnaire developed and validated for patients with a cleft, were collected, including participants from countries with all sorts of income statuses, to examine the value of additional moments of measurement that are used in other cleft initiatives.Data from 2500 patients were included. Measured outcomes contained univariate regression analyses, trend analyses, t-tests, correlations and floor and ceiling effects. RESULTS: PROMs correlated low to moderate with clinical outcome measures. Clinical outcome measures correlated low to moderate with each other too. In contrast, two CLEFT-Q Scales correlated strongly with each other. All PROMs and the Percent Consonants Correct (PCC) showed an effect of age. In patients with an isolated cleft palate, a ceiling effect was found in the Intelligibility in Context Scale. CONCLUSION: Recommendations for an optimal speech outcome assessment in cleft patients are made. Measurement moments of different cleft protocols and initiatives are considered in this proposition. Concerning the type of measures, adjustment of the current PCC score outcome seems appropriate. For centres with adequate resources and specific interest in research, translation and validation of an upcoming tool, the Cleft Audit Protocol for Speech Augmented, is recommended.

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.

EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.(Gln61 ∗)) in the NECTIN4 gene. The variant segregated perfectly with the disorder within the family. The candidate variant was absent in 50 in-house exomes pertaining to other disorders from the same population. In addition to the previously reported clinical phenotype, an upper lip cleft was found in one of the affected members as a novel phenotype that is not reported by previous studies in EDSS1 patients. Therefore, the study presented here, which was conducted on the Kashmiri population, is the first to document a NECTIN4 mutation associated with the upper lip cleft as a novel phenotype. This finding broadens the molecular and phenotypic spectrum of EDSS1.

Establishment of a Three-Dimensional Finite Element Model and Mechanical Analysis of the Upper Lip Flap With Secondary Cleft Lip Deformity.

Cleft lip secondary deformity is a common oral and maxillofacial deformity, usually accompanied by the upper lip and nasal cleft. The main treatment method for cleft lip secondary deformity is surgical repair. Among them, upper lip flap repair is a common method; the principle is to transplant the healthy tissue to the lesion site to achieve the purpose of repair. However, during the surgical process, each key point's stress distribution and strain conditions are quite different. Therefore, special attention should be paid to the mechanical properties of each key point during the repair operation to ensure the surgical effect. This paper aims to establish a 3-dimensional finite element model and perform finite element analysis to simulate the mechanical properties and key point displacement of the upper lip flap repair operation for cleft lip secondary deformity to improve the operation's success rate and safety.

Clinical Characterization of Congenital Anophthalmic and Microphthalmic Cavities in Inidviduals With Craniofacial Anomalies.

OBJECTIVE: Measure the frequency of anophthalmic and microphthalmic patients with craniofacial anomalies (FCAs). DESIGN: Descriptive, cross-sectional, retrospective study. SETTING: Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP). The medical records of patients treated at HRAC from 2000 to 2012 with a diagnosis of congenital anophthalmia or microphthalmia were examined. Patients were excluded for secondary anophthalmia, incomplete medical records, or information that could not be accessed. OUTCOME MEASURES: Frequency of anophthalmia and microphthalmia; the proportions and diagnoses of associated FCAs; impairment of ocular appendages; extracranial or facial anomalies; genetic alterations; and surgical approach. RESULTS: A total of 56 patients had anophthalmia (52.3%), 35 had microphthalmia (32.7%), and 16 patients had both (15%). Individuals with FCAs associated with microphthalmia, anophthalmia, or both totaled 74, corresponding to 69.2%. Anophthalmia was more likely than microphthalmia to be accompanied by FCAs, at 76.4% of patients ( P < 0.05). Cleft lip and palate were the main malformations associated with anophthalmia (23.64%), with microphthalmia (45%), and with both (44.44%). Reconstructive surgery was done in 63.6% of cases. The ocular attachments were compromised in 71% of cases. Extracraniofacial malformations were found in 9.3% of patients. Only 7 records contained karyotypes, and no changes directly related to anophthalmia or microphthalmia were found. CONCLUSION: Anophthalmia is more frequent than microphthalmia and is more often accompanied by FCA. Cleft lip and cleft palate are the most frequent concomitant malformations.