Barriers to Accessing Medical Care for Hispanic Individuals With Craniofacial Conditions.

In the United States, having limited access to health care has been an ongoing concern that could cause detrimental effects for minority populations, specifically the Hispanic population. Numerous barriers to accessing health care were identified for both pediatric and adult Hispanic patients who were born with craniofacial conditions. Barriers that were determined to impact Hispanic patients with craniofacial conditions from receiving medical and health services included language and communication, patient-health care provider relationships, socioeconomic status and finances, insurance status, timely access to appointments, citizenship and immigration status, and lack of family and social support. Interventions for these barriers were also proposed to increase support for Hispanic patients. Lamentably, there is scant research that investigates how these barriers affect this special population, despite the limitations that they have in their ability to access health care. In addition, these barriers to treatment have dire consequences for individuals with craniofacial conditions. The findings and proposed interventions discussed in this review article provide measures to minimize these barriers and define ways to benefit Hispanic patients with craniofacial conditions.

Ethnic differences in craniofacial and upper spine morphology between European and Asian children with skeletal Class III malocclusion.

INTRODUCTION: The aims of this study were to analyze differences in craniofacial and upper cervical spine morphology, including posterior cranial fossa and growth prediction signs between European and Asian skeletal Class III children, and to analyze associations between morphologic deviations in the upper cervical spine and craniofacial characteristics. METHODS: A total of 60 skeletal Class III children, 19 Danes and 41 Koreans, were included. Upper spine morphology, Atlas dimensions, and craniofacial morphology, including posterior cranial fossa and growth prediction signs, were assessed on lateral cephalograms. Differences and associations were analyzed by multiple linear and logistic regression analyses adjusted for age and gender. RESULTS: In the craniofacial morphology, the inclination of the maxilla (NSL/NL, P <0.05) and the shape of the posterior cranial fossa (s-d, d-p, p-iop; P <0.01 and P <0.0001, respectively) were significantly different between the 2 groups. There was no significant difference in upper cervical spine morphology and Atlas dimensions between the groups. Fusion was significantly associated with the sagittal jaw relationship (P <0.05), and the total upper spine deviations were significantly associated with some growth prediction signs (P <0.05, P <0.01). Atlas dimensions were significantly associated with the prognathia of the mandible (P <0.05), posterior cranial fossa (P <0.01, P <0.0001), and some growth prediction signs (P <0.05, P <0.01). CONCLUSIONS: Upper spine morphology and Atlas dimensions may provide valuable information for predicting jaw growth and craniofacial morphology in Class III malocclusion.

Whole-exome sequencing identified four loci influencing craniofacial morphology in northern Han Chinese.

Facial shape differences are one of the most significant phenotypes in humans. It is affected largely by skull shape. However, research into the genetic basis of the craniofacial morphology has rarely been reported. The present study aimed to identify genetic variants influencing craniofacial morphology in northern Han Chinese through whole-exome sequencing (WES). Phenotypic data of the volunteers' faces and skulls were obtained through three-dimensional CT scan of the skull. A total of 48 phenotypes (35 facial and 13 cranial phenotypes) were used for the bioinformatics analysis. Four genetic loci were identified affecting the craniofacial shapes. The four candidate genes are RGPD3, IGSF3, SLC28A3, and USP40. Four single-nucleotide polymorphism (SNP) site mutations in RGPD3, IGSF3, and USP40 were significantly associated with the skull shape (p < 1×10-6), and three SNP site mutations in RGPD3, IGSF3, and SLC28A3 were significantly associated with the facial shape (p < 1×10-6). The rs62152530 site mutation in the RGPD3 gene may be closely associated with the nasal length, ear length, and alar width. The rs647711 site mutation in the IGSF3 gene may be closely associated with the nasal length, mandibular width, and width between the mental foramina. The rs10868138 site mutation in the SLC28A3 gene may be associated with the nasal length, alar width, width between tragus, and width between the mental foramina. The rs1048603 and rs838543 site mutations in the USP40 gene may be closely associated with the pyriform aperture width. Our findings provide useful genetic information for the determination of face morphology.

Third molar agenesis as a potential marker for craniofacial deformities.

The identification of clinical patterns of tooth agenesis in individuals born with craniofacial deformities may be a useful tool for risk determination of these defects. We hypothesize that specific craniofacial deformities are associated with third molar agenesis. OBJECTIVE: The aim of this study was to identify if third molar agenesis could have a relation with other craniofacial structure alterations, such as cleft lip and palate, skeletal malocclusion, or specific growth patterns in humans. DESIGN: Data were obtained from 550 individuals ascertained as part of studies aiming to identify genetic contributions to oral clefts. 831 dental records of patients aged over eight years seeking orthodontic treatment were also included. SN-GoGn angle were used to classify the growth pattern (hypo-divergent, normal and hyper-divergent), and the ANB angle was used to verify the skeletal malocclusion pattern (Class I, II and III). Panoramic radiographs were used to determine third molar agenesis. RESULTS: A high frequency of third molar agenesis among individuals born with cleft lip with or without cleft palate (55%), as well as among their relatives (93.5%) was found. Third molar agenesis was not associated to skeletal malocclusion or growth pattern. CONCLUSION: It appears that third molar agenesis is associated with the disturbances that lead to cleft lip and palate.

Osteologic analysis of ethnic differences in supernumerary ethmoidal foramina: implications for endoscopic sinus and orbit surgery.

BACKGROUND: Knowledge of the position of the ethmoidal arteries is critical to enable safe endoscopic sinus and orbital surgery. The presence of a third or "middle" ethmoid variant has recently become more relevant as endoscopic intraconal surgery continues to advance. The purpose of this study was to quantify the presence of supernumerary (ie, over 2) ethmoid foramina in different ethnicities and genders. METHODS: Morphometric osteologic measurements were performed in 273 orbits. Prevalence of supernumerary ethmoid foramina and orbital length data were obtained from human skulls of Asian (n = 54), Caucasian (n = 70), African (n = 39), Hispanic (n = 49), and Middle Eastern (n = 61) derivation. Correlations between gender, ethnicity, symmetry, orbital floor, and lamina papyracea length were assessed by analysis of variance, paired t test, and χ2 test. RESULTS: Supernumerary foramina were identified in 95 of 273 orbits (34.79%). A significantly higher prevalence was seen in Asian (42.59%), African (41.02%), and Hispanic (41.00%) skulls as compared with Caucasian (25.71%) and Middle Eastern (22.95%) skulls (p < 0.05 for all). The length of the orbital floor was significantly shorter in the Asian (3.35 ± 1.52 cm) specimens (p < 0.01). Asians were found to have the highest risk of ethmoid artery injury compared with the other ethnic groups (ratio of number of supernumerary foramina to orbital floor length = 0.72). CONCLUSION: Supernumerary ethmoidal foramina were common among all orbits studied. Orbits of Asian and African derivation had significantly greater numbers of ethmoidal foramina, both unilaterally and symmetrically and within a shorter orbital length, suggesting a greater proximity between the ethmoidal vessels. Surgeons should be alert to the possible presence of middle ethmoidal vessels during endoscopic sinus and orbital approaches.

Metopism: a Study of the Persistent Metopic Suture.

Metopism, the persistence of the metopic suture in adulthood, is a clinically significant radiographic finding. In addition to masquerading as a fracture of the frontal bone, a persistent metopic suture may be associated with other clinically significant anatomical variations including frontal sinus abnormalities. Several geographically and craniofacially distinct populations have yet to be assessed for the prevalence of metopism. This study aimed to determine the prevalence of metopic sutures in adult crania of diverse populations among which scant research exists. A total of 505 adult crania were examined for the presence of a metopic suture. A total of 13 (2.57%) demonstrated metopism. Among subpopulations, metopism was present in 8.06% (5:62) of European crania, 15.38% (2:13) of East Asian crania, 2.20% (2:91) of Egyptian crania, and 2.86% (1:35) of Bengali crania. Metopism was also found in 1 Chilean, Roman, and Tchuktchi cranium, respectively. Metopism was not seen in crania from individuals of African (non-Egyptian) descent (0:62), Peruvians (0:144), Malayans (0:23), or Mexicans (0:23). Among sexes, metopism was present in 3.77% (8:212) of females and 1.79% (5:279) of males. The prevalence of metopism differs between populations and sexes. The results of this study provide anthropological, developmental, and clinical insight with regard to metopism.

Relationship between the cranial base and the mandible in artificially deformed skulls.

OBJECTIVES: There is controversy regarding the relationship between mandibular position and alterations of the cranial base that provoke a more anterior location of the glenoid fossa. Artificially deformed skulls display marked alterations of the cranial base. This study evaluates mandibular changes as function of the morphology of the cranial base in these skulls. MATERIAL AND METHODS: A geometric morphometric study was performed on lateral cephalometric X-rays of three groups of skulls: 32 with anteroposterior deformity, 17 with circumferential deformity and 39 with no apparent deformity. RESULTS: In artificially deformed skulls, the cranial base was deformed causing the mandibular condyle to be in a more anterior position. There was a complete remodelling of the mandible involving narrowing and elongation of the mandibular ramus, rotation of the corpus of the mandible and increased vertical height of the symphysis. Forward displacement did not occur. Integration between mandible and cranial base is not altered by deformation of the skull. CONCLUSIONS: Deformity of the cranial vault exerts an influence on the mandible, supporting the theory of modular units in complete integration. This also supports the theory that mandibular prognathism is a multifactorial result and not a direct effect of displacement of the cranial base.

Carrier rates of four single-gene disorders in Croatian Bayash Roma.

To assess how specific population history, different migration routes, isolation, and endogamy practices contributed to the distribution of several rare diseases found in specific Roma groups, we conducted a population-based research study of rare disease mutations in Croatian Vlax Roma. We tested a total of 427 subjects from Baranja and Medimurje for the presence of four mutations causing hereditary motor and sensory neuropathy type Lom (HMSNL), GM1 gangliosidosis (GM1), congenital cataracts, facial dysmorphism and neuropathy (CCFDN), and limb girdle muscle dystrophy type 2C (LGMD2C), using the RFLP-PCR method to estimate carrier frequencies. We identified a total of four individuals heterozygous for the mutation causing HMSNL in the Baranja population, with a carrier rate amounting to 1.5%. Carriers for other three mutations causing GM1, CCFDN, and LGMD2C were not found in our sample. The carrier rate for the HMSNL mutation in Baranja is lower than in other Vlax Roma groups. In addition, distinct differences in carrier rates between the Croatian Vlax groups point to different genetic history, despite their belonging to the same Roma migration category and subgroup. The difference in carrier rates is either the result of admixture or the reflection of a greater extent of genetic drift since recent founding, maintained by a high degree of endogamy.

[Ethnic rhinoplasty - type changing or type preserving?]. / Ethnische Rhinoplastik - typverändernd oder typerhaltend?

INTRODUCTION: We observe an annual augmentation of rhinoplasties to patients with migration background. This article illustrates the special features of the design and procedure of the operation considering the ethnic factors. METHODS: We present a review of patients with Middle Eastern origin, their nasal characteristics, their psychological specificities, specific expectations and some surgical concepts referring to a selective literature review. RESULTS: The Middle Eastern nose with a few exceptions offers a combination of specific characteristics. This requires detailed discussions and a thorough preoperative evaluation. More-over, both the psychological specificities and the expectations of patients should not be disregarded. The treatment of patients with a Middle Eastern background requires a particular empathy. In addition to the anatomic characteristics, expectations, role models and the ethnic behaviour in the pre- and postoperative period must all be considered. In the expectations of the patients the surgeons should be familiar with the Middle Eastern role models. The possibilities and the surgical limits can be discussed in detail with the patient and unrealistic expectations should be avoided. CONCLUSION: The increased mix of ethnic groups requires a new approach to aesthetic rhinoplasty, which aims primarily to provide individual solutions. Middle Eastern noses represent one of the most demanding challenges in rhinoplasty which lead to dramatic changes and to deeply grateful patients for which a lot of experience is required. Therefore the surgeon has to be highly specialised in Middle Eastern Nose rhinoplasty.

Combined epicanthoplasty and blepharoptosis correction in Asian patients.

BACKGROUND: In ptosis surgery, not addressing the epicanthal fold leaves a persistent rounded nasal scleral triangle, which blunts the effect of ptosis repair and leads to patient dissatisfaction. To achieve satisfactory results, epicanthoplasty is usually performed with ptosis correction. Furthermore, surgeons usually choose epicanthoplasty methods based on personal preference, and no guideline exists for selecting optimal methods. The aim of this study was to demonstrate the usefulness of a concomitant procedure (ptosis correction and epicanthoplasty) and to provide recommendations for the selection of epicanthoplasty. METHODS: The medical records of 99 patients that underwent simultaneous ptosis correction and epicanthoplasty from September of 2003 to January of 2011 were reviewed. Differences between preoperative and postoperative interepicanthal distances were analyzed by using patient photographs, and interepicanthal distance changes were evaluated for each epicanthoplasty. RESULTS: Epicanthoplasty was performed in the 99 patients using elliptical excision epicanthoplasty in 24 cases, periciliary epicanthoplasty in 12 cases, half-Z epicanthoplasty in eight cases, and V-W epicanthoplasty in 55 cases. Some changes in interepicanthal distances were observed after epicanthoplasty. Interepicanthal distance changes depended on the method used (elliptical excision epicanthoplasty, 3.1 mm; half-Z epicanthoplasty, 4 mm; periciliary epicanthoplasty, 5.3 mm; and V-W epicanthoplasty, 5.4 mm). The greatest differences between preoperative and postoperative interepicanthal distance values were found for periciliary and V-W epicanthoplasty, and these differences were statistically significant. No revision operations were conducted, and most patients were satisfied with results. CONCLUSIONS: In general, concurrent ptosis and epicanthus should be corrected to provide optimal cosmetic benefit. Periciliary or V-W epicanthoplasty is indicated when epicanthal folds are severe. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Otologic and audiologic features of ethnic Chinese patients with Turner syndrome in Taiwan.

BACKGROUND/PURPOSE: Otologic and audiologic characteristics of Turner syndrome (TS) have been well documented in Caucasian-but not in Asian-populations. We report these features and possible causative factors for hearing loss in ethnic Chinese TS patients in Taiwan. METHODS: The study was a cross-sectional trial that analyzed patients diagnosed with TS. We enrolled patients for otologic evaluations and age-appropriate pure tone audiometry. To explore the potential associations with hearing loss, we studied patient karyotype, history of recurrent otitis media (OM) and various craniofacial anomalies. RESULTS: The 46 patients (mean age 17.3 years, range 5-34 years) enrolled, 22 (47.8%) had a history of recurrent OM. Otoscopic examination identified eardrum abnormalities in 45.6% of patients with myringosclerosis as the most common condition. A total of 21.7% patients showed auricular anomalies. Audiologic analysis revealed five cases (10.7%) with conductive hearing loss (CHL) and eight cases (17.4%) with sensorineural hearing loss (SNHL). Among patients with a history of recurrent OM, CHL prevailed (p = 0.0192) over SNHL (p = 0.1278). Karyotype and craniofacial anomalies were not associated with CHL or SNHL (p > 0.05). CONCLUSION: We found varying degrees of otologic and audiologic abnormalities among the TS in ethnic Chinese population. About one-half of the patients had recurrent OM, which was more likely to be associated with CHL in early life. Therefore, regular surveillance, early diagnosis, and the initiation of appropriate treatment are crucial in improving the hearing and speech in children with TS as well as in preventing short- and long-term associated complications.

Obesity and craniofacial structure as risk factors for obstructive sleep apnoea: impact of ethnicity.

OSA is the result of structural and functional abnormalities that promote the repetitive collapse of the upper airway during sleep. This common disorder is estimated to occur in approximately 4% of men and 2% of women, with prevalence studies from North America, Australia, Europe and Asia indicating that occurrence is relatively similar across the globe. Anatomical factors, such as obesity and craniofacial morphology, are key determinants of the predisposition to airway collapse; however, their relative importance for OSA risk likely varies between ethnicities. Direct inter-ethnic studies comparing craniofacial phenotypes in OSA are limited. However, available data suggest that Asian OSA populations primarily display features of craniofacial skeletal restriction, African Americans display more obesity and enlarged upper airway soft tissues, while Caucasians show evidence of both bony and soft tissue abnormalities. Our recent comparison of Chinese and Caucasian OSA patients found for the same degree of OSA severity. Caucasians were more obese, and Chinese had more skeletal restriction. However, the ratio of obesity to craniofacial bony size (or anatomical balance, an important determinant of upper airway volume and OSA risk) was similar between Caucasians and Chinese OSA patients. Ethnicity appears to influence OSA craniofacial phenotype but furthermore the relative contribution of the anatomical factors underlying OSA risk. The skeletal restriction craniofacial phenotype may be particularly vulnerable to increasing obesity rates. Better understanding of craniofacial phenotypes encompassing ethnicity may help improve OSA recognition and treatment; however, further studies are needed to elucidate ethnic differences in OSA anatomical risk factors.

Metopism: as an indicator of cranial pathology; a good example from Iranian plateau.

Metopism had been observed as a genetic trait. Recent studies have brought to light that it can get as an indicator of cranial pathology. An example of this pathology has been studied by this author on an Iranian skeletal sample. The purpose of this paper is to provide basic information on the subject and thereby to create awareness among Iranian anthropologists and archaeologists of this new line of evidence as well as to pathologists.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

BACKGROUND: Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features. OBJECTIVE: To identify an additional causative gene in Sensenbrenner syndrome. METHODS: Single nucleotide polymorphism array analysis and standard sequencing techniques were applied to identify the causative gene. The effect of the identified mutation on protein translation was determined by western blot analysis. Antibodies against intraflagellar transport (IFT) proteins were used in ciliated fibroblast cell lines to investigate the molecular consequences of the mutation on ciliary transport. RESULTS: Homozygosity mapping and positional candidate gene sequence analysis were performed in two siblings with Sensenbrenner syndrome of a consanguineous Moroccan family. In both siblings, a homozygous mutation in the initiation codon of C14ORF179 was identified. C14ORF179 encodes IFT43, a subunit of the IFT complex A (IFT-A) machinery of primary cilia. Western blots showed that the mutation disturbs translation of IFT43, inducing the initiation of translation of a shorter protein product from a downstream ATG. The IFT-A protein complex is implicated in retrograde ciliary transport along axonemal microtubules. It was shown that in fibroblasts of one of the siblings affected by Sensenbrenner syndrome, disruption of IFT43 disturbs this transport from the ciliary tip to its base. As anterograde transport in the opposite direction apparently remains functional, the IFT complex B proteins accumulate in the ciliary tip. Interestingly, similar results were obtained using fibroblasts from a patient with Sensenbrenner syndrome with mutations in WDR35/IFT121, encoding another IFT-A subunit. CONCLUSIONS: The results indicate that Sensenbrenner syndrome is caused by disrupted IFT-A-mediated retrograde ciliary transport.

Differences in craniofacial structures and obesity in Caucasian and Chinese patients with obstructive sleep apnea.

STUDY OBJECTIVES: To explore differences in craniofacial structures and obesity between Caucasian and Chinese patients with obstructive sleep apnea (OSA). DESIGN: Inter-ethnic comparison study. SETTING: Two sleep disorder clinics in Australia and Hong Kong. PATIENTS: 150 patients with OSA (74 Caucasian, 76 Chinese). INTERVENTIONS: Anthropometry, cephalometry, and polysomnography were performed and compared. Subgroup analyses after matching for: (1) body mass index (BMI); (2) OSA severity. MEASUREMENTS AND RESULTS: The mean age and BMI were similar between the ethnic groups. Chinese patients had more severe OSA (AHI 35.3 vs 25.2 events/h, P = 0.005). They also had more craniofacial bony restriction, including a shorter cranial base (63.6 +/- 3.3 vs 77.5 +/- 6.7 mm, P < 0.001), maxilla (50.7 +/- 3.7 vs 58.8 +/- 4.3 mm, P < 0.001) and mandible length (65.4 +/- 4.2 vs 77.9 +/- 9.4 mm, P < 0.001). These findings remained after correction for differences in body height. Similar results were shown in the BMI-matched analysis (n = 66). When matched for OSA severity (n = 52), Chinese patients had more craniofacial bony restriction, but Caucasian patients were more overweight (BMI 30.7 vs 28.4 kg/m2, P = 0.03) and had a larger neck circumference (40.8 vs 39.1 cm, P = 0.004); however, the ratios of BMI to the mandible or maxilla size were similar. CONCLUSIONS: Craniofacial factors and obesity contribute differentially to OSA in Caucasian and Chinese patients. For the same degree of OSA severity, Caucasians were more overweight, whereas Chinese exhibited more craniofacial bony restriction.

Craniofacial abnormalities in Chinese patients with obstructive and positional sleep apnea.

BACKGROUND: Obstructive sleep apnea (OSA) is a common disorder characterized by recurrent episodes of a complete or partial collapse of the upper airway during sleep. Traditionally, the disease is diagnosed by overnight polysomnography. Studies have shown correlation between parameters of cephalometry and severity of sleep apnea. We wish to determine the variable of craniofacial dimensions in the upper airway that contribute to OSA, and to investigate the significance of craniofacial measurements in positional and non-positional sleep apnea patients. METHODS: From July 2002 to June 2006, we studied 84 males and 15 females who came to the sleep center because of daytime sleepiness. All the participants underwent overnight polysomnography and lateral cephalograms, performed by an experienced technician. RESULTS: Craniofacial measurements of gnathion-gonion, anterior superior hyoid to mandibular plane (MP-H), posterior nasal spine (PNS) to the velum tip (SPL), widest point of the soft palate (SPW), and the product of PNS to the velum tip and widest point of the soft palate (product of soft palate (SPP)=SPL x SPW) were positively related to the apnea/hypopnea index (AHI). The velum tip to the pharyngeal wall parallel to the Frankfurt horizontal (PAS) was negatively related to the AHI. We further divided the study subjects into 4 groups according to AHI value (group 1, AHI<5; group 2, 5 or=30). Age, body mass index (BMI), neck circumference (NC), distances of PAS, SPL, SPW, SPP and angle of sella-nasion-infradentale (SNB) were significantly different depending on the degree of severity of sleep-disordered breathing (SDB). Patients who were older, with a high BMI and longer MP-H distance, had more daytime sleepiness (Epworth sleepiness scale, ESS). Furthermore, lower AHI values and longer PAS measurements were found in the positional sleep apnea group when compared to the non-positional sleep apnea group. After adjusting for confounding factors of age, BMI and NC, we found that BMI, MP-H distance and PAS measurement were correlated with severity of OSA. CONCLUSIONS: Cephalometry could be a useful and inexpensive clinical tool to evaluate Chinese patients with OSA. MP-H and PAS should be measured in Chinese patients with OSA. MP-H was correlated with ESS. The PAS measurement was narrower in non-positional OSA patients compared to positional OSA patients.

Spectrum and management of dentofacial deformities in a multiethnic Asian population.

OBJECTIVE: The aim of this retrospective study is to investigate the spectrum and management of dentofacial deformities in a multiethnic Asian community. MATERIALS AND METHODS: Over a period of 3 years (2001 to 2003), 212 patients with dentofacial deformities who had undergone orthognathic surgery in a national tertiary specialist center in Singapore were reviewed. Patients with cleft lip and palate or syndromes were excluded. RESULTS: The mean age (range: 16 to 58 years) of the patients was 24.0 years (SD 6.4) and the ratio of female to male was 1.3:1. The predominant ethnic group was Chinese (91.5%). The majority of the patients had skeletal Class III pattern (68%). Asymmetry was diagnosed in 36% of all cases and in 48% of skeletal Class III cases. Vertical maxillary excess was diagnosed in 21% of all cases and in 47% of skeletal Class II cases. Bimaxillary surgery involving LeFort and bilateral sagittal split osteotomies was performed in 84% of skeletal Class III cases and in 73% of all cases. Segmental osteotomy and genioplasty were performed in 41% of the cases. CONCLUSIONS: The findings suggest that the majority of the patients were young Chinese adults with two-jaw deformities requiring bimaxillary surgeries with genioplasty or segmental osteotomy. This finding may reflect the greater severity of dentofacial deformities in patients in the Asian community.

Facilitating cleft palate team participation of culturally diverse families in South Africa.

OBJECTIVE: The Facial Cleft Deformities Clinic, University of Pretoria, Pretoria, South Africa, provides interdisciplinary team services to patients with cleft lip and palate and craniofacial anomalies. They represent the "rainbow nation" of South Africa and reflect the multicultural and multilingual nature of the population, which poses a challenge to effective and accountable service delivery. The aim of this study was to explore some cultural variations that exist in black families that influence their participation in the team approach and to describe the assets of families that may be used to empower them and to enhance service delivery. DESIGN: A descriptive survey research design. A questionnaire-by-interview procedure was utilized during routine visits of 35 black families to the Facial Cleft Deformities Clinic. RESULTS: The results are discussed from an ethnographic perspective of the family and describe the knowledge base of the participants, the diagnosis and treatment of the children's cleft lip and palate, family structure and support systems, family income and education, and the geographical distribution of the participants. Implications for building family partnerships and for improving professionals' cultural competence in order to improve the quality of service delivery are presented. CONCLUSIONS: By viewing cultural differences on a continuum, following the asset-based approach, applying knowledge based on contextually relevant research, and recognizing family uniqueness, families may be empowered to participate fully in the team approach to support their children with cleft lip and palate and craniofacial anomalies in attaining their full potential in the South African context.

Craniofacial dysmorphology in Swedish schizophrenia patients.

OBJECTIVE: To perform detailed assessments of craniofacial dysmorphology in individuals with schizophrenia and controls in Sweden, in order to further elucidate the neurodevelopmental origins of schizophrenia. METHOD: We performed detailed, anthropometric assessments of craniofacial dysmorphology in male patients with schizophrenia (n=24), healthy controls (n=16), and patients' siblings with schizophrenia (n=2) in Sweden, while remaining as blind as possible to schizophrenia/control status. RESULTS: Individuals with schizophrenia evidenced significantly more craniofacial dysmorphology than controls, especially in the ears and mouth. At a group level, there was a dose-response type relationship between total dysmorphology score and patient/control status. CONCLUSION: The consistency of results across multiple studies supports the hypothesis that individuals with schizophrenia have increased rates of prenatal developmental disturbances. The presence of a dose-response type relationship between total dysmorphology score and patient/control status supports the importance of neurodevelopmental disturbance as a contributory cause of schizophrenia.

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

Cohen syndrome is a rare autosomal recessive disorder with a variable clinical picture mainly characterized by developmental delay, mental retardation, microcephaly, typical facial dysmorphism, progressive pigmentary retinopathy, severe myopia, and intermittent neutropenia. A Cohen syndrome locus was mapped to chromosome 8q22 in Finnish patients, and, recently, mutations in the gene COH1 were reported in patients with Cohen syndrome from Finland and other parts of northern and western Europe. Here, we describe clinical and molecular findings in 20 patients with Cohen syndrome from 12 families, originating from Brazil, Germany, Lebanon, Oman, Poland, and Turkey. All patients were homozygous or compound heterozygous for mutations in COH1. We identified a total of 17 novel mutations, mostly resulting in premature termination codons. The clinical presentation was highly variable. Developmental delay of varying degree, early-onset myopia, joint laxity, and facial dysmorphism were the only features present in all patients; however, retinopathy at school age, microcephaly, and neutropenia are not requisite symptoms of Cohen syndrome. The identification of novel mutations in COH1 in an ethnically diverse group of patients demonstrates extensive allelic heterogeneity and explains the intriguing clinical variability in Cohen syndrome.