Agujero Timpánico bilateral. Análisis de caso desde la literatura / Bilateral tympanic hole. Case analysis from the literature

La pared del conducto auditivo externo (CAE) parte de la formación del hueso timpánico; integrándose posteriormente a la porción petrosa del hueso temporal. El agujero timpánico o foramen de Huschke corresponde a un defecto en la osificación en donde existe fusión incompleta de porciones anteriores y posteriores del anillo timpánico dejando una abertura que comunica el CAE hacia anterior. Su presencia es normal hasta los 5 años de edad, tiempo en que se debiese obliterar. Su incidencia es baja (3-24%), pero la persistencia en adulto, conlleva sintomatología inespecífica caracterizada por otalgia, dolor en articulación temporomandibular (ATM), tinnitus, hipoacusia o manifestaciones complejas como descarga salival en CAE durante la masticación. Clínicamente puede complicar procedimientos de infiltración y artroscopias de ATM. Rara vez ocasiona, en pacientes mayores de 50 años, herniación de la cabeza del cóndilo mandibular. Su diagnóstico puede ser clínico por medio de otoscopia, donde se observa protuberancia de tejido en pared anterior del CAE, que aumenta de tamaño con la boca cerrada. También puede ser imagenológico con una tomografía computarizada. El tratamiento incluye desde medidas conservadoras para manejo del dolor e inflamación, hasta quirúrgicas con la implantación de injertos, placas o prótesis para cerrar la estructura o para reemplazar el cóndilo mandibular. El presente estudio pretende aportar incidencia dentro del área de estudio. Se analiza por observación directa, cráneo seco, completo, masculino, edad entre 12 a 15 años (según morfología del cóndilo mandibular y erupción dental). Se observa agujero de Huschke, bilateral, ambos permeables de diámetro 4 mm en ambos casos, determinados con regla milimetrada. La relevancia del defecto se asocia a la práctica clínica de otorrinolaringólogos, cirujanos maxilofaciales y odontólogos, ya sea como diagnóstico diferencial asociado a los síntomas inespecíficos, como para procedimientos más invasivos en la zona tales como infiltraciones o artroscopias de ATM

The wall of the external auditory canal (EAC) starts from the formation of the tympanic bone; later it is integrated to the petrous portion of the temporal bone. The tympanic foramen or foramen of Huschke corresponds to a defect in ossification where there is incomplete fusion of the anterior and posterior portions of the tympanic ring leaving an opening that communicates the EAC to its anterior aspect. Its presence is normal until 5 years of age, when it should be absolutely obliterated. Its incidence is low (3-24%), but its persistence in adults leads to non specific symptoms characterized by otalgia, pain in the temporomandibular joint (TMJ), tinnitus, hearing loss, or complex manifestations such as salivary discharge in the CAE during mastication. Clinically, it may complicate TMJ infiltration and arthroscopy procedures. It rarely causes herniation of the mandibular condyle head in patients older than 50 years. Its diagnosis can be clinical by means of otoscopy, where tissue protrusion is observed in the anterior wall of the CAE, which increases in size when the mouth is closed. It can also be imaging with computed tomography. Treatment includes from conservative measures to treat pain and inflammation, to surgical measures with the implantation of grafts, plates or prosthesis to close the structure or to replace the mandibular condyle. The present study aims to provide incidence within the study area. It is analyzed by direct observation, dry skull, complete, male, age between 12 to 15 years (according to mandibular condyle morphology and dental eruption). Huschke's foramen was observed, bilateral, both permeable, diameter 4mm in both cases, determined with a millimeter ruler. The relevance of the defect is associated with the clinical practice of otolaryngologists, maxillofacial surgeons and dentists, either as a differential diagnosis associated with nonspecific symptoms, or for more invasive procedures in the area such as infiltrations or TMJ arthroscopies.

Kleefstra Syndrome.

Kleefstra syndrome (KS), previously referred to as 9q subtelomeric deletion syndrome (9qSTDS), is characterised by moderate to severe developmental delay/mental retardation, childhood hypotonia, and brachy-microcephaly (main clinical phenotype), midface hypoplasia, prognathism, lip and eyebrow shape anomalies. The true prevalence of KS is unknown, but it is estimated that it occurs with a frequency of 1/200.000 in cases with mental retardation. On literature search, approximately 110 patients have been reported so far. Genetic analysis should be planned and interdisciplinary monitoring should be provided in cases suspected to have KS.   Key Words: Child, Genetic disorder, Kleefstra Syndrome, Dysmorphism.

Increased risk of temporomandibular joint disorders and craniofacial deformities in patients with juvenile idiopathic arthritis: a population-based cohort study.

Juvenile idiopathic arthritis (JIA) is an autoimmune disease that has been proposed to involve the temporomandibular joint (TMJ). The aim of this study was to identify the relationships between JIA, TMJ disorders, and craniofacial deformities. This cohort study included patients diagnosed with clinically active JIA between 1999 and 2013 through a nationwide longitudinal health registry. The primary outcome was the presence of a TMJ disorder. The secondary outcome was the presence of a JIA-associated craniofacial deformity. A total of 2791 patients with JIA were included in the case group; 11,164 propensity score-matched individuals without JIA were selected from the same database as controls. TMJ disorders were present in 142 individuals: 48 (1.72%) in the case group and 94 (0.84%) in the control group (relative risk 2.047, 95% confidence interval 1.446-2.898). Craniofacial deformities were present in 374 individuals: 112 (4.01%) in the case group and 262 (2.35%) in the control group (relative risk 1.722, 95% confidence interval 1.380-2.148). Patients with JIA showed a significantly greater likelihood of developing TMJ disorders and craniofacial deformities compared to matched controls.

Development and validation of a postnatal risk score that identifies children with prenatal alcohol exposure.

BACKGROUND: This study aimed to develop an efficient and easily calculable risk score that can be used to identify an individual's risk of having been exposed to alcohol prenatally. METHODS: Data for this study were collected as part of the Collaborative Initiative on Fetal Alcohol Spectrum Disorders, Phases 2 and 3. Two cohorts (ages 5 to 17 years) completed a comprehensive neurobehavioral battery and a standard dysmorphology exam: a development cohort (DC; n = 325) and a comparative cohort (CC; n = 523). Both cohorts included two groups: those with histories of heavy prenatal alcohol exposure (AE-DC, n = 121; AE-CC, n = 177) and a control group that included subjects with minimal or no prenatal alcohol exposure (CON-DC, n = 204; CON-CC, n = 346). Behavioral assessments and physical exam data were combined using regression techniques to derive a risk score indicating the likelihood of prenatal alcohol exposure. Subjects were then divided into two subgroups: (1) low risk and (2) high risk. Chi-square (χ2 ) determined classification accuracy and ROC curves were produced to assess the predictive accuracy. Correlations between risk scores and intelligence quotient and executive function scores were calculated. RESULTS: Subjects were accurately classified in the DC (χ2  = 78.61, p < 0.001) and CC (χ2  = 86.63, p < 0.001). The classification model also performed well in the DC (ROC = 0.835 [SE = 0.024, p < 0.001]) and CC (ROC = 0.786 [SE = 0.021, p < 0.001]). In the AE-CC and CON-CC, there were modest but significant associations between the risk score and executive function (AE-CC: r = -0.20, p = 0.034; CON-CC: r = -0.28, p < 0.001) and intelligence quotient (AE-CC: r = -0.20, p = 0.034; CON-CC: r = -0.28, p < 0.001). CONCLUSION(S): The risk score significantly distinguished alcohol-exposed from control subjects and correlated with important cognitive outcomes. It has significant clinical potential and could be easily deployed in clinical settings.

Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study.

OBJECTIVE: To describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. STUDY DESIGN: All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors). Rare craniofacial anomalies (craniosynostosis, craniofacial microsomia, and others [Pierre Robin, Van der Woude, and Treacher Collins syndrome]) were ascertained from the Western Australian Register of Developmental Anomalies and linked to other data sources. Trends in prevalence, adjusted for sex and Indigenous status, were investigated by Poisson regression and presented as annual percent change (APC). Strengths of association of related factors were assessed using multivariable log-binomial regression adjusted for sex, Indigenous status, birth year, socioeconomic disadvantage, and remoteness and reported as risk ratios with 95% CIs. RESULTS: There was a temporal increase in prevalence of metopic synostosis (APC 5.59 [2.32-8.96]) and craniofacial microsomia (Goldenhar syndrome) (APC 4.43 [1.94-6.98]). Rare craniofacial anomalies were more likely among infants born preterm, as twins or greater-order multiples, with growth restriction, to older parents, to mothers undertaking fertility treatments, and with pre-existing medical conditions, specifically epilepsy, diabetes, or hypothyroidism. Prenatal identification of rare craniofacial anomalies was uncommon (0.6%). CONCLUSIONS: Our findings indicate a steady increase over time in prevalence of metopic synostosis and craniofacial microsomia (Goldenhar syndrome). Possible associations of fertility treatments and pre-existing maternal medical conditions with rare craniofacial anomalies require further investigation.

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.

INTRODUCTION: Craniofacial microsomia (CFM) is caused by abnormalities in the development of the first and second pharyngeal arches. One-third to half of the patients with CFM also present with extra craniofacial (ECF) malformations. The knowledge of the visceral alteration related to CFM is vital for optimized care and a better prognosis. AIM: To describe the incidence of ECF malformations in patients with CFM and to infer if there was a correlation between CFM and ECF malformations. MATERIALS AND METHODS: The authors analyzed medical records of patients diagnosed with CFM from 1996 to 2006. The data collected included age, gender, category of craniofacial alteration, and the type of ECF malformation when present. The sample was inspected to find possible correlations between craniofacial abnormalities and ECF malformations. RESULTS: The sample included 102 patients, with a mean age of 7 years and a predominance of males (61.8%). Ear malformations (93.1%) followed by mandible (59.8%) and facial nerve (10.8%) abnormalities were the most common CFM. Among patients with CFM, 37.2% had ECF involvement, mainly in vertebrae (20%), heart (11%), and limbs (9.8%). Multivariate analysis revealed that the presence of ear malformations was related to a higher incidence of nonspecific visceral malformations (P = 0.034) and that mandible malformation was related to an increased incidence of vertebral malformations (P = 0.008). CONCLUSION: A significant percentage of patients with CFM presented associated ECF impairment. Ear and mandible involvement may be predictors of nonspecific visceral malformation and vertebral malformations, respectively.

The neurodevelopmental basis of schizophrenia: clinical clues from craniofacial dysmorphology in northwest Ethiopia, 2020.

BACKGROUND: The neurodevelopmental speculation of schizophrenia states that the pathogenesis of schizophrenia starts with early fetal or neonatal neurocraniofacial development rather than youthful adulthood when manic signs and symptoms are evident. However, there is no direct evidence of a pre-or peri-natal lesion associated with schizophrenia, rather indirect evidence of impaired development can be seen in macroscopic anatomical variations as well as microscopic immunohistochemical anomalies. One approach to studying neurodevelopmental disturbances among schizophrenic patients is somatic physical evidence or neurodevelopmental markers. Thus Our study aimed to assess the neurodevelopmental basis of schizophrenia clinical clues from anthropometric assessment of craniofacial dysmorphology among schizophrenic patients in North West Ethiopia 2019-2020. METHOD: Institutional-based comparative cross-sectional study design was conducted in Debre Markos comprehensive specialized hospitals in 190 schizophrenic patients, 190 1st-degree relatives, and 190 healthy controls. Data were collected using standard methods, entered into EpiData version 3.1, and exports to SPSS version 24 for analysis. Descriptive data were analyzed using descriptive statistics. Welch ANOVA and post hoc comparison, a Games-Howell test, were conducted. Significance was set at a p-value of α = 0.05. Read back analysis was also conducted for the conclusion. RESULTS: Five hundred seventy study samples, male 375(65.8%), and female 195 (34.2%), were included in this study. The Games-Howell test revealed that the coronal arc length and sagittal arc length among schizophrenic patients were statistically significantly longer than the healthy controls (p < 0.006; p < 0.001, respectively). However, the difference between schizophrenic and healthy control regarding head circumference was marginally significant (p = 0.056). Schizophrenic patients had a significantly shorter total facial height (p < 0.001) and upper facial height (p < 0.001) than healthy controls. Regarding facial depth, schizophrenic patients had significantly shallow upper facial depth (p < 0.001), middle facial depth (p = 0.046), and lower facial depth (p < 0.001). CONCLUSION: our finding indicated indirect evidence for disturbed craniofacial development in schizophrenia patients, and close and read back analysis of the result supported the neurodevelopmental basis of disease.

Advanced Practice Provider Clinics: Expediting Care For Children Undergoing Tympanostomy Tube Placement.

OBJECTIVE/HYPOTHESIS: Advanced practice provider (APP) employment is becoming common in pediatric otolaryngology practices, though few studies have evaluated the consequences that APP-led clinics have on access to care. The objectives of this study were: 1) to investigate whether access to bilateral myringotomy with tympanostomy tube placement (BMT) for recurrent acute otitis media (RAOM) differed between patients seen in otolaryngologist and APP-led clinics 2) to compare clinical characteristics of patients seen by provider type. METHODS: Retrospective cohort study at an academic, tertiary care pediatric otolaryngology practice. All children were <18 years old and underwent evaluation for RAOM followed by BMT. We compared time in days from scheduling pre-operative appointment to appointment date and time from appointment to BMT between patients seen by APPs and otolaryngologists using Mann-Whitney U tests and multivariate linear regression models. We compared clinical characteristics by provider type using Mann-Whitney U tests and Fisher exact tests. RESULTS: A total of 957 children were included. Children seen by APPs had significantly shorter wait times for appointments (median 19 vs. 39 days, P < .001) and shorter times from preoperative appointment to BMT (median 25 vs. 37 days, P < .001). Patients seen by otolaryngologists had increased prevalence of craniofacial abnormalities, Down Syndrome, hearing loss, history of otologic surgery, and higher ASA physical status classification. CONCLUSIONS: Children seen by APPs received care more quickly than those seen by otolaryngologists. Patients seen by otolaryngologists tended to be more medically complex. Implementation of independent APP clinics may expedite and improve access to BMT for children with RAOM. LEVEL OF EVIDENCE: 3 Laryngoscope, 131:2133-2140, 2021.

Multi-perspective clustering of obstructive sleep apnea towards precision therapeutic decision including craniofacial intervention.

PURPOSE: Previous studies focusing on phenotyping obstructive sleep apnea (OSA) have outlined its heterogeneity in clinical symptoms, comorbidities, and polysomnographic features. However, the role of anatomical or pathophysiological causality including craniofacial skeletal deformity has not been studied. We aimed to identify and characterize phenotypes of OSA based on multi-perspective clustering by incorporating craniofacial risks with obesity, apnea severity, arousability, symptom, and comorbidity. METHODS: A total of 421 Korean patients with OSA (apnea-hypopnea index, AHI ≥ 5; age ≥ 20 years old) were recruited. A K-means cluster analysis was performed following principal component analysis with sagittal and vertical skeletal variables (ANB and mandibular plane angle), AHI, body mass index, and Epworth sleepiness scale. Inter-cluster comparison was conducted using demographic, cephalometric, and polysomnographic variables in addition to presence of diabetes and hypertension. Risk factors contributing to OSA severity were evaluated in each cluster using multivariable regression analysis with adjustment for age and gender. RESULTS: Three phenotypic clusters were identified and characterized as follows: Cluster-1 (noncraniofacial phenotype, 39%), non-obese moderate-to-severe OSA with no skeletal discrepancy representing low arousal threshold (ArTh), little sleepiness, and low comorbidity; Cluster-2 (craniofacial skeletal phenotype, 33%), non-obese moderate OSA with definite skeletal discrepancy showing low ArTh, mild sleepiness, and low comorbidity; and Cluster-3 (complicated phenotype, 28%), obese severe OSA with skeletal discrepancy exhibiting high ArTh, excessive daytime sleepiness, and high incidence of hypertension. CONCLUSIONS: The three OSA phenotypes from multi-perspective clustering may provide a basis for precise therapeutic decision-making including craniofacial skeletal intervention beyond usual characterization of OSA subgroups.

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.

It has been estimated that 10-15% of people with Robinow syndrome (RS) show delayed development, but no studies have formally assessed developmental domains. The objective of this study is to provide the first description of cognitive, adaptive, and psychological functioning in RS. Thirteen participants (10 males) aged 4-51 years were seen for neuropsychological screening. Eight had autosomal-dominant RS (DVL1, n = 5; WNT5A, n = 3), four had autosomal-recessive RS (NXN, n = 2; ROR2, n = 2), and one had a mutation on an RS candidate gene (GPC4). Participants completed measures of intellectual, fine-motor, adaptive, executive, and psychological functioning. Findings indicated generally average intellectual functioning and low-average visuomotor skills. Adaptive functioning was average in autosomal-recessive RS (RRS) but low average in autosomal-dominant RS (DRS). Parent-report indicated executive dysfunction and attention problems in 4/8 children, 3/4 of whom had a DVL1 variant; adult self-report did not indicate similar difficulties. Learning disabilities were also reported in 4/8 individuals with DRS, 3/4 of whom had a DVL1 variant. Peer problems were reported for a majority of participants, many of whom also reported emotional concerns. Altogether, the findings indicate average neurocognitive functioning in RRS. In contrast, DRS, especially DVL1 pathogenic alleles, may confer specific risk for neurodevelopmental disability.

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.

Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes have never been systematically assessed. Here, 11 facial traits commonly reported in Axenfeld-Rieger syndrome were assessed by five clinical geneticists blinded to the molecular diagnosis. Individuals were drawn from the Australian and New Zealand Registry of Advanced Glaucoma in Australia or recruited through the Genetic and Ophthalmology Unit of l'Azienda Socio-Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda in Italy. Thirty-four individuals from 18 families were included. FOXC1 variants were present in 64.7% of individuals and PITX2 variants in 35.3% of individuals. A thin upper lip (55.9%) and a prominent forehead (41.2%) were common facial features shared between both genes. Hypertelorism/telecanthus (81.8% vs 25.0%, p = 0.002) and low-set ears (31.8% vs 0.0%, p = 0.036) were significantly more prevalent in individuals with FOXC1 variants compared with PITX2 variants. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.

Diffuse Calvarial Hyperostosis in Patients with Spontaneous Intracranial Hypotension.

BACKGROUND: Diagnosis of spontaneous intracranial hypotension (SIH) may be delayed due to nonspecific symptoms and variable imaging findings. Cases of hyperostosis in children who are overshunted, a process that may be physiologically analogous to adults with SIH, have been reported by others and observed in our practice. The purpose of this retrospective study was to assess the frequency and pattern of calvarial hyperostosis in patients with SIH. METHODS: We retrospectively reviewed computed tomography and magnetic resonance imaging examinations from consecutive patients who underwent myelography for the evaluation of SIH to assess for the presence of generalized calvarial thickening or development of a secondary layer of bone. Patients with typical benign hyperostosis frontalis were excluded. Patient demographics and clinical factors were evaluated for association with hyperostosis. RESULTS: Among 285 patients with SIH, 40 (14.0%) demonstrated diffuse calvarial hyperostosis on imaging. Most of these patients (32/40; 80.0%) demonstrated a distinct circumferentially layered appearance to the skull, whereas 8 of 40 (20.0%) had generalized calvarial thickening without layering. CONCLUSIONS: Diffuse calvarial hyperostosis, particularly the concentrically layered form that we term "layer cake skull," is a relatively common imaging feature in patients with SIH. In the appropriate clinical context, this finding will allow the possibility of SIH to be raised based on computed tomography imaging, which is otherwise of limited utility in the initial diagnosis of this condition.

Clinical characterization and outcome of prolonged heart rate-corrected QT interval among children with syndactyly.

Prolonged heart rate-corrected QT (QTc) interval is an independent risk factor for sudden cardiac death, which is the hallmark of Timothy syndrome (TS). There are little data on children with syndactyly and QTc prolongation.To evaluate the characteristics and long-term outcomes in children with syndactyly, and to attempt to identify TS in patients with syndactyly and QTc prolongation.This is a retrospective case-control study of children with syndactyly who visited Beijing Jishuitan Hospital between July 2003 and February 2013. The patients with prolonged QTc intervals are matched 1:4 with patients without prolongation. Genetic testing of the CACNA1C gene is routinely performed in patients with QTc prolongation.The mean age at admission is 3.4 ±â€Š2.3 years. Compared with the normal QTc group, those with QTc prolongation showed higher frequencies of congenital heart disease (11.8% vs 1.5%, P = .042), mental retardation and facial dysmorphia (11.8% vs 0, P = .004), and T wave alternans (23.5% vs 4.4%, P = .01). In the multivariable analysis, only T wave alternans (OR = 10.61, 95%CI: 1.39-81.16, P = .023) is independently associated with QTc prolongation in patients with syndactyly. One child with QTc prolongation had a mutation in the CACNA1C gene. No patients with prolonged QTs interval met the threshold for TS.Children with syndactyly and prolonged QTc interval had more multisystem diseases and electrocardiography abnormalities. T wave alternans is independently associated with QTc prolongation in patients with syndactyly.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings. METHODS: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome. RESULTS: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow-up measurement of cognition and adaptive behaviour in Marshall-Smith syndrome shows different individual learning curves over time. CONCLUSIONS: Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit.

Craniofacial Anomaly Association with the Internal Malformations in the Pediatric Age Group in Al-Fallujah City-Iraq.

OBJECTIVES: To estimate the prevalence of craniofacial anomalies among Iraqi people and its association with other congenital malformations. METHODS: A hospital-based cohort study. It was conducted in Iraq, Fallujah city from Jan 2019-April 2019. The pediatric age group below 16 years attending the consultation clinic. RESULTS: The prevalence rate of craniofacial anomalies was 2%. There were 43 (54%) males and 37 (46%) females. A 55 cases (69%) out of total 80 cases have an association with other internal congenital malformations, and 25 cases (31%) have no association. Those associated internal malformations were categorized according to their types into congenital heart disease 33(60%), Renal diseases 9 (16%), CNS anomalies 8(15%), and GIT anomalies 5(9%). CONCLUSIONS: Craniofacial anomalies showed a relatively higher prevalence rate in comparison to other studies worldwide. It was found that the majority of craniofacial anomalies might be associated with other congenital systemic malformations. Furthermore, the necessary actions to identify the frequency and risk factors associated with craniofacial anomalies in the Iraqi population are emphasized to put a better strategy to establish future preventive programs and treatment.

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.

Proatlas anomalies in craniofacial malformations: 5-year experience in King Chulalongkorn Memorial Hospital.

PURPOSE: To review the prevalences of proatlas anomalies in craniofacial malformations and evaluate the relation between craniofacial malformation and proalast anomalies. METHODS: The 221 patients with craniofacial malformation who underwent CT facial bone and 3D brain in King Chulalongkorn Memorial Hospital (KCMH). Then, the craniofacial malformed patients are classified into six groups composed of craniosynostosis, cephalocele, midface anomaly, facial and branchial arch syndrome, facial cleft face, and others. Reviewing image finding by the researcher and the radiologist advisor was done separately and gave the consensus in the case with disagreement. Qualitative analysis of the prevalence of proatlas anomalies was achieved. In addition, assessment of the relationship between craniofacial malformation and proatlas anomalies was conducted using Pearson's chi-square test to determine statistical significance. RESULT: The proatlas anomalies were presented in 26 patients of 221 craniofacial malformed patients. Details of frequentative proatlas anomalies consist of pre-basioccipital arch in eight patients, os odontoideum in five patients, bony mass along the margin of foramen magnum in three patients, atlas assimilation in two patients, hypertrophic occipital condyle in one patient, third occipital condyle in one patient, and mixed characteristic of proatlas anomalies in six patients. These results represented pre-basioccipital arch and os odontoideum as the two most common presentations among proatlas anomalies and also showed significant existence of proatlas diseases in craniofacial malformation (p value = 0.006). CONCLUSION: Our results emphasize the existence of proatlas anomalies which should be carefully looked for, particularly in craniofacial malformed patients due to significant statistical correlation.

Adherence to follow-up recommendations for babies at risk for pediatric hearing loss.

OBJECTIVE: The purpose of this retrospective study was to evaluate the families' compliance with recommendations for continued monitoring of babies with high-risk factors for hearing loss. METHODS: Hearing screening and follow-up results from 604 babies were tracked across a five-year period. Bivariate analysis, including chi-square analysis, t-tests, and one-way analyses of variance were conducted to test whether various factors predicted likelihood of follow up. RESULTS: Although 86% of the babies returned for the initial follow-up appointment, few completed the protocol or were diagnosed with hearing loss (10.3%). Excluding the babies who never returned, the average age for initial assessment was near the recommended 3-month target (3.5 months). However, babies were last seen at 9.4 months on average, which is earlier than recommended. Some factors positively predicted follow-up: receipt of ototoxic medication, hyperbilirubinemia requiring transfusion, ECMO, syndromes associated with hearing loss, craniofacial anomalies, and passing the newborn hearing screening. Others were negatively predictive: NICU stay >5 days, younger maternal age, and failing the newborn screening. There was no relationship between the results of the last test and whether the families continued with monitoring. Babies with risks categorized as more likely to be associated with delayed onset hearing loss were more often late to the initial follow up, but also followed up for a longer period of time. CONCLUSIONS: These results demonstrate the need to focus on the barriers unique to babies with risk factors for late onset/progressive hearing loss in addition to those barriers that generally affect loss to follow up. Tools for parental engagement are recommended.

Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.

OBJECTIVE: The objective of this study is to evaluate the prenatal diagnosis, postnatal characteristics, and the spectrum of associated findings in fetuses with holoprosencephaly (HPE). METHODS: Fetal neurosonograms, postnatal assessment, and chromosomal analysis were performed in a cohort of 25 fetuses with HPE. RESULTS: The prevalence of HPE in high-risk pregnancies was 4.4:10 000. The alobar subtype was the most frequently encountered, with 17 cases (68%). Interestingly, among them, four cases (16%) presented with the rare agnathia-otocephaly complex. Chromosomal abnormalities were detected in 11 cases (44%), the most frequent being trisomy 13 in seven cases (five alobar, one semilobar, and one lobar HPE), followed by trisomy 18 in two cases with semilobar HPE. One case of alobar HPE had 45, XX, t(18;22) (q10;q10), -18p karyotyping, and one case of semilobar HPE was associated with triploidy. Facial malformations in HPE spectrum ranged from cyclopia, proboscis, and arrhinia that were associated with the alobar subtype to hypotelorism and median cleft that were frequent among the semilobar and lobar subtypes. Associated neural tube defects were identified in 12% of cases. CONCLUSION: Our study illustrates the clinical and genetic heterogeneity of HPE and describes different chromosomal abnormalities associated with HPE.