Spectrum of Disease in Hospitalized Newborns with Congenital Micrognathia: A Cohort of 3,236 Infants at North American Tertiary-Care Intensive Care Units.

OBJECTIVE: To describe the spectrum of disease and burden of care in infants with congenital micrognathia from a multicenter cohort hospitalized at tertiary care centers. STUDY DESIGN: The Children's Hospitals Neonatal Database was queried from 2010 through 2020 for infants diagnosed with micrognathia. Demographics, presence of genetic syndromes, and cleft status were summarized. Outcomes included death, length of hospitalization, neonatal surgery, and feeding and respiratory support at discharge. RESULTS: Analysis included 3,236 infants with congenital micrognathia. Cleft palate was identified in 1266 (39.1%). A genetic syndrome associated with micrognathia was diagnosed during the neonatal hospitalization in 256 (7.9%). Median (IQR) length of hospitalization was 35 (16, 63) days. Death during the hospitalization (n = 228, 6.8%) was associated with absence of cleft palate (4.4%, P < .001) and maternal Black race (11.6%, P < .001). During the neonatal hospitalization, 1289 (39.7%) underwent surgery to correct airway obstruction and 1059 (32.7%) underwent gastrostomy tube placement. At the time of discharge, 1035 (40.3%) were exclusively feeding orally. There was significant variability between centers related to length of stay and presence of a feeding tube at discharge (P < .001 for both). CONCLUSIONS: Infants hospitalized with congenital micrognathia have a significant burden of disease, commonly receive surgical intervention, and most often require tube feedings at hospital discharge. We identified disparities based on race and among centers. Development of evidence-based guidelines could improve neonatal care.

The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

SMARCA4 encodes a central ATPase subunit in the BRG1-/BRM-associated factors (BAF) or polybromo-associated BAF (PBAF) complex in humans, which is responsible in part for chromatin remodeling and transcriptional regulation. Variants in this and other genes encoding BAF/PBAF complexes have been implicated in Coffin-Siris Syndrome, a multiple congenital anomaly syndrome classically characterized by learning and developmental differences, coarse facial features, hypertrichosis, and underdevelopment of the fifth digits/nails of the hands and feet. Individuals with SMARCA4 variants have been previously reported and appear to display a variable phenotype. We describe here a cohort of 15 unrelated individuals with SMARCA4 variants from the Coffin-Siris syndrome/BAF pathway disorders registry who further display variability in severity and degrees of learning impairment and health issues. Within this cohort, we also report two individuals with novel nonsense variants who appear to have a phenotype of milder learning/behavioral differences and no organ-system involvement.

La relació de la micrognàtia transversal amb alguns factors de risc en infants mexicans / Micrognatismo transversal y su relación con algunos factores de riesgo en niños mexicanos / Risk factors of transversal micrognathiain mexican children

Fonament: La micrognàtia transversal (MT) és una alteració del creixement ossi i de la relació dental que impedeix el funcionament adequat de l'aparell masticatori. Objectiu: Avaluar si hi ha associació entre la freqüència d'MT amb la lactància materna de menys de sis mesos, la presència d'hàbits de succió digital, la respiració bucal i l'absència d'espais fisiològics. Mètode: Es va dur a terme un estudi transversal examinant 273 infants mexicans de cinc anys, de tots dos sexes. Abans de l'enquesta es va estandarditzar un cirurgià dentista (k=0,998). Per al tractament estadístic es van calcular freqüències i percentatges, i la prova de khi quadrat corregida de Yates. Resultats: La condició clínica més freqüent va ser l'absència d'espais fisiològics (62,3%); així mateix, l'MT va tenir una distribució variable per sexe, prò no significativa. Es va observar associació entre l'MT amb l'absència d'espais fisiològics, l'hàbit de respiració bucal, la lactància i la mossegada profunda (X 2 Y =10,311, p =0,0001; X 2 Y =7,290, p=0,0001; X 2 Y =21,374, p =0,0001; X2 Y =8,127, p =0,044, respectivament), però no amb la succió digital. Conclusions: Els resultats d'aquest estudi posen de manifest el paper rellevant del pediatre per recomanar a les mares que alletin els seus fills durant un període no menor a sis mesos, així com la responsabilitat d'identificar i eradicar les causes que provoquen que l'infant respiri per la boca, a més de fer la derivació a l'odontopediatre en el cas que ho consideri necessari, perquè elimini aquest hàbit, com a mesura de prevenció per al desenvolupament de maloclusions dentals

Fundamento: El micrognatismo transversal (MT) es una alteración del crecimiento óseo y de la relación dentaria que impiden el funcionamiento adecuado del aparato masticatorio. Objetivo: Evaluar si existe asociación entre la frecuencia de MT con la lactancia materna menor a seis meses, la presencia de hábitos de succión digital, la respiración bucal y la ausencia de espacios fisiológicos. Método: Se llevó a cabo un estudio transversal examinando a 273 niños mexicanos de cinco años, de ambos sexos. Previamente a la encuesta, se estandarizó a un cirujano dentista ( k =0,998). Para el tratamiento estadístico fueron calculados frecuencias y porcentajes, y la prueba de ji cuadrado corregida de Yates. Resultados: La condición clínica más frecuente fue la ausencia de espacios fisiológicos (62,3%); asimismo, el MT tuvo una distribución variable por sexo, pero no significativa. Se observó asociación entre el MT con la ausencia de espacios fisiológicos, el hábito de respiración bucal, la lactancia y la mordida profunda (X 2Y=10,311, p=0,0001; X2Y=7,290, p=0,0001; X2Y=21,374, p=0,0001; X2Y=8,127, p=0,044, respectivamente), pero no con la succión digital. Conclusiones: Los resultados del resente estudio ponen de manifiesto el papel relevante del pediatra para recomendar a las adres que amamanten a sus hijos durante un periodo no menor a seis meses, así omo la responsabilidad de identificar y erradicar las causas que provocan que el niño espire por la boca, además de su derivación al odontopediatra en el caso de que lo onsidere necesario, para que elimine este hábito como medida de preven-ción para el esarrollo de maloclusiones dentales

Background: Transversal micrognathia (TM) is an alteration of bone growth and the dental distribution that affects the adequate function of masticatory apparatus. Objective: To evaluate the association between the frequency of transversal micrognathia and breastfeeding less than six months, the presence of thumb sucking habits, oral breathing, and the absence of physiological spaces. Method: We conducted a transversal study including 273 five- years-old Mexican children of both sexes. Prior to the survey, we standardized the evaluation by a dental surgeon ( k=0.998). We calculated frequencies and percentages, and applied the chi-squa-red test with Yates correction. Results: The most frequent clinical condition found was the absence of physiological spaces (62.3%). TM had a variable but not significant sex distribution. We observed an association between TM and the absence of physiological spaces, oral breathing, breastfeeding, and deep biting (X2Y=10,311, p=0,0001; X2Y=7,290, p=0,0001; 2Y=21,374, p=0,0001; X2Y=8,127, p=0,044, respec-tively), but not with thumb sucking. Conclusions: Our results highlight the relevant role of the pediatrician in advising others that breastfeed their children for periods shorter than six months, as well as the esponsibility to identify and eradicate the factors that cause oral breathing and rompt evaluation by a pediatric dentist when required to prevent the de-velopment of dental malocclusion

[Nocturnal pulse oximetry indicators in the evaluation of obstructive sleep apnea syndrome in outpatients with concomitant diseases of the upper respiratory tract and overweight]. / Pokazateli nochnoi pul'soksimetrii v otsenke sindroma obstruktivnogo apnoé vo sne u ambulatornykh patsientov s soputstvuiushchei patologiei verkhnikh dykhatel'nykh putei i izbytochnoi massoi tela.

AIM: By using mathematical modeling, to evaluate the impact of upper respiratory tract diseases, retro- and micrognathia, and body mass index (BMI) on nocturnal pulse oximetry indicators (oxygen saturation level and oxygen desaturation index) in outpatients examined for suspected obstructive sleep apnea syndrome (OSAS). SUBJECTS AND METHODS: The study enrolled 260 subjects with a mean age of 47.8±12.0 years. All the examinees underwent outpatient pulse oximetry screening during nocturnal sleep because of suspected OSAS. Multislice spiral computed tomography was carried out to assess the paranasal sinuses and nasal septum. BMI was calculated. Variance factor analysis using an original programming application intended to create binary and ternary dispersion complexes was employed as a main mathematical tool. RESULTS: There were statistically significantly sets of risk factors for OSAS: nasal septum deviation + increased BMI + male gender = 68.66%; chronic allergic rhinitis + increased BMI + male gender = 63.09%; retromicrognathia + increased BMI + male ganger = 59.48%; and chronic tonsillitis + increased BMI + male gander = 60.88%. Higher BMI and male gender are a most statistically significant set of risk factors. CONCLUSION: Pulse oximetry screening during nocturnal sleep in snoring patients with suspected OSAS in combination with an assessment of age, sex, BMI, ENT comorbidity, retro- and micrognathia can predict the severity of the disease and serve as a basis for elaborating an OSAS screening program.

Prenatal sonographic features of triploidy at 12-16 weeks.

OBJECTIVE: The purpose of our study was to describe the sonographic appearance of triploidy in early pregnancy. METHODS: We report the sonographic characteristics of a cohort of fetal triploid cases detected at targeted ultrasonographic vaginal examinations between 12 and 16 weeks of gestation from 2008 to 2014. Indications for fetal karyotype following ultrasound were maternal request, advanced maternal age, increased nuchal translucency, and/or fetal abnormalities. RESULTS: Triploidy was detected in 25 cases during the 6 years of the study period with an estimated incidence of ~1 in 5000 pregnancies. Four cases had molar changes in the placenta. Among the remaining 21 cases, a consistent sonographic pattern was noted, which included the combination of asymmetric growth restriction with abdominal circumference lagging 2 weeks behind head circumference in 21/21, oligohydramnios in 20/21, abnormal posterior fossa or enlarged fourth ventricle in 20/21, and absent gall bladder in 17/21. Other findings present in more than 50% of cases included cardiac (70%) and renal (55%) abnormalities, clenched hands (55%), and hypoplastic lungs (67%). CONCLUSION: Fetal triploidy can manifest at 12-16 weeks with molar changes in the placenta or with a cluster of unusual sonographic findings whose presence should prompt appropriate testing for diagnosis in early pregnancy. © 2016 John Wiley & Sons, Ltd.

Evolution of Obstructive Sleep Apnea in Infants with Cleft Palate and Micrognathia.

STUDY OBJECTIVES: Children with craniofacial anomalies are a heterogeneous group at high risk for obstructive sleep apnea (OSA). However, the prevalence and structural predictors of OSA in this population are unknown. We hypothesized that infants with micrognathia would have more significant OSA than those with isolated cleft palate ± cleft lip (ICP), and those with ICP would have more significant OSA than controls. We postulated that OSA severity would correlate with reduced mandibular size, neurodevelopmental scores, and growth. METHODS: Prospective cohort study. 15 infants with ICP, 19 with micrognathia, and 9 controls were recruited for polysomnograms, neurodevelopmental testing, cephalometrics (ICP and micrognathia groups) at baseline and a follow-up at 6 mo. RESULTS: Baseline apnea-hypopnea index (AHI) [median (range)] of the micrognathia group [20.1 events/h (0.8, 54.7)] was greater than ICP [3.2 (0.3, 30.7)] or controls [3.1 (0.5, 23.3)] (p = 0.001). Polysomnographic findings were similar between ICP and controls. Controls had a greater AHI than previously reported in the literature. Cephalometric measures of both midface hypoplasia and micrognathia correlated with OSA severity. Neurodevelopment was similar among groups. OSA improved with growth in participants with ICP and postoperatively in infants with micrognathia. CONCLUSIONS: Micrognathia, but not ICP, was associated with more significant OSA compared to controls. Both midface and mandibular hypoplasia contribute to OSA in these populations. OSA improved after surgical correction in most infants with micrognathia, and improved without intervention before palate repair in infants with ICP.

Influencia de la lactancia materna en el desarrollo transversal de los maxilares / Influence of the breastfeeding in the transversal development of the jawbones

Introducción: el amamantamiento es la medida más eficaz y menos costosa para evitar la desnutrición y enfermedades infecciosas durante los primeros meses de vida, además estudios estomatológicos realizados indican que la falta de lactancia materna o un corto período de esta se asocia con la presencia de maloclusiones dentales. Objetivo: determinar la relación existente entre el período de lactancia materna y el insuficiente desarrollo transversal de los maxilares en niños de pre-escolar del área de salud del Policlínico Bayamo Oeste. Método: se realizó un estudio descriptivo transversal en el período comprendido entre septiembre de 2012 y julio de 2013, donde se utilizó una muestra de 212 niños de 5 años de edad, con los objetivos de determinar la relación existente entre el período de lactancia materna menor de 6 meses y el insuficiente desarrollo de los maxilares, así como la presencia de hábitos bucales deformantes. Resultados: se encontraron como resultados una prevalencia de micrognatismo transversal de 59.4 por ciento, de los 86 niños con micrognatismo transversal 75 no presentaban diastemas de crecimiento, y el 24.1 por ciento de estos presentaba bóveda palatina profunda, el total de los niños con micrognatismo transversal recibieron lactancia materna por menos de 6 meses o esta estuvo ausente, el hábito más frecuente fue el uso prolongado del biberón con un 32 por ciento. Conclusiones: el micrognatismo transversal constituye un problema de salud en estomatología cuya prevalencia es alta en los niños de 5 años de edad estudiados. Existe una relación directamente proporcional entre la lactancia materna por un período menor de 6 meses o la ausencia de ésta y el insuficiente desarrollo de los maxilares(AU)

Introduction: breastfeeding is the most effective and least expensive way to avoid malnutrition and infectious diseases during the first months of life, besides some stomatological studies show that the lack of breastfeeding or its absence is associated with the presence of teeth malocclusions. Objective: to determine the relationship between the period of breastfeeding and the insufficient cross-development of the jaws in preschool children from the health area of West Bayamo Polyclinic. Method: it was carried out a descriptive and transversal study in the period between September 2012 and July 2013, with a sample of 212, 5 year-old-children, with the objectives of determining the relationship between the breastfeeding period under 6 months and the insufficient development of the jaws, and the presence of deforming oral habits.Results: it was found a prevalence of transversal micrognathism of 59.4 percent, from the 86 children with cross micrognathism, 75 had no growing diastema, and 24.1 percent of themhad deep palatal vault, the amountof children with transversal micrognathism received breastfeeding for less than 6 months or it was absent;the most frequent habit was the prolonged use of bottles with 32 percent. Conclusions: transversalmicrognathism is a health problem in stomatology and it has a highprevalence in 5 year-old-children under study. There is a direct relationship between breastfeeding for a shorter period of 6 months or its lack there of and the insufficient development of the jaws(AU)

Prevalencia de micrognatismo transversal de maxilares en niños con 5 años de edad / Prevalence of transverse maxillary micrognathia in children with 5 years of age

Se realiza un estudio durante el período noviembre de 2010 a septiembre de 2013 en los círculos infantiles del área de atención de la Clínica Estomatológica Lidia Doce para determinar la prevalencia del micrognatismo transversal de los maxilares, así como su relación con el período de lactancia materna y la presencia de hábitos bucales deformantes. El universo está formado por 248 niños y niñas con 5 años de edad. A partir del método probabilístico estratificado aleatorio se selecciona una muestra de 62 niños, teniendo en cuenta los criterios de inclusión. Las variables estudiadas son el micrognatismo transversal de los maxilares, edad, sexo, hábitos bucales deformantes, período de lactancia materna y la presencia de diastemas fisiológicos de crecimiento. La investigación reveló la existencia de una alta prevalencia de micrognatismo transversal de los maxilares, siendo el superior el más afectado. Se recomienda intensificar los tratamientos de ortodoncia interceptiva(AU)

A study was performed from November 2010 to September 2013 in the kindergartens and Stomatology area care Lidia Doce to determine the prevalence of transverse maxillary micrognathia Clinic and its relation to breastfeeding mother and the presence of deforming oral habits. The universe is made up of 248 children 5 years of age. From the probabilistic method stratified random sample of 62 children selected, taking into account the inclusion criteria. The variables are studied: transverse maxillary micrognathia, age, sex, disfiguring oral habits, duration of breastfeeding and the presence of physiological growth diastema. The investigation revealed the existence of a high prevalence of transverse maxillary micrognathia, the upper most affected. Intensified interceptive orthodontic treatments are recommended

Incidence of concomitant airway anomalies when using the university of California, Los Angeles, protocol for neonatal mandibular distraction.

BACKGROUND: In newborns with micrognathia and severe upper airway obstruction, understanding potential airway lesions is important for determining appropriate treatment: observation, mandibular distraction, or tracheostomy. When concomitant airway anomalies are present, mandibular distraction is often unsuccessful at alleviating causes of obstruction, mandating the need for tracheostomy. The first part of this study evaluates 10-year results using the University of California, Los Angeles, algorithm for surgical candidacy to identify patients who will benefit from neonatal mandibular distraction. The second part describes the concomitant airway abnormalities found at the time of diagnostic laryngoscopy/bronchoscopy and how these anomalies affect neonatal distraction candidacy of these patients. METHODS: Newborns admitted to the neonatal intensive care unit with micrognathia and upper airway obstruction (n = 133) were subjected to a decision tree model protocol formulated by a multidisciplinary team at the University of California, Los Angeles, to decide on appropriate treatment. Concomitant airway abnormalities were recorded and outcomes were documented for the first 5 years of life. RESULTS: Fifty-five percent of patients underwent internal mandibular distraction with 97 percent success. Home observation with a nasopharyngeal tube was chosen in 11 percent of patients, and 34 percent had tracheostomies. On endoscopic examination, 51.7 percent of the nondistracted patients had concomitant airway anomalies: laryngomalacia (53.3 percent), tracheal web (20.0 percent), vocal cord paralysis (13.3 percent), epiglottal collapse (6.7 percent), and infraglottal narrowing (6.7 percent). CONCLUSIONS: For the management of neonatal upper airway obstruction with micrognathia, a decision tree algorithm is useful to determine candidates for mandibular distraction. Diagnostic laryngoscopy/bronchoscopy is an important component of this algorithm because a multitude of airway anomalies may be present. CLINICAL QUESTION/LEVEL OF EVIDENCE: : Therapeutic, IV.

Relationship between hypoplastic right coronary artery and coronary artery anomalies.

OBJECTIVES: The frequency of hypoplastic right coronary artery (HRCA) and its contribution to coronary artery anomalies (CAAs) has not been thoroughly studied. Here we aimed to investigate whether a casual relationship exists between the presence of HRCA and CAAs. MATERIALS AND METHODS: We retrospectively reviewed coronary angiography records of 7500 patients. The images were carefully assessed for coronary artery (CA) anatomy and CAAs. Overall, we compared CAAs at the presence and absence of HRCA and evaluated potential association between HRCA and CAAs. Besides, we grouped HRCA patients according to the presence of CA disease (CAD) into two groups and compared their CAAs. RESULTS: While the percentage of HRCA was 6.2%, it was 3.34% for CAAs. The percentage of CA with anomalous origin (CAAO) at the presence of HRCA was significantly higher than the presence of normal right coronary artery (NRCA) (p < 0.01). Similarly, the percentage of absent left main coronary artery (ALMCA) was also considerable increased in HRCA patients with respect to the patients with NRCA (p < 0.01). The percentage of CAAO was notably higher in the CAD (-) than CAD (+) patients with HRCA (p < 0.01). Likewise, the prevalence of ALMCA was also noticeably higher in the CAD (-) than CAD (+) patients with HRCA (p < 0.01). CONCLUSIONS: HRCA is a clinically significant and frequently encountered congenital variation. The present observations indicate that the presence of HRCA is closely associated with a high prevalence of CAAO, particularly with increased rate of ALMCA.

Influencia de la lactancia materna en el micrognatismo transversal y los hábitos bucales deformantes / Influence of breastfeeding in transversal micrognathism and deforming oral habits

El amamantamiento ha sido la primera forma de alimentación del género humano. Es indiscutible la repercusión de este acto en el desarrollo integral del niño, y el aparato estomatognático no está ajeno a este influjo. Este trabajo se efectuó con el propósito de evaluar la influencia de la lactancia materna en el crecimiento transversal del maxilar y su relación con la presencia de hábitos bucales deformantes. Se realizó un estudio descriptivo de tipo transversal, donde se examinó el total de niños (156), de 2 a 5 años de edad, pertenecientes al círculo infantil Días de Infancia, del área de salud Playa, en el período febrero 2007-febrero 2008. Para la recolección de información, se utilizó una encuesta confeccionada al efecto. Los datos fueron procesados en tablas y gráficos. Se emplearon análisis estadísticos para establecer relaciones de dependencia entre las variables estudiadas. El 56,41 por ciento de los niños recibieron lactancia por un período menor de 6 meses. El micrognatismo transversal estuvo presente en igual porcentaje. Solo el 23,08 por ciento no practicaba hábitos bucales deformantes. El 72,73 por ciento de los niños que recibieron lactancia materna por más de 6 meses presentaron un adecuado desarrollo transversal del maxilar, mientras que el 30,30 por ciento no estuvo comprometido con la práctica de hábitos bucales incorrectos(AU)

The breastfeeding has been the first form of feeding of the humankind. It is unquestionable the repercussion of this act in the boy's integral development, and the stomatognathic apparatus is not unaware to this influence. The aim of this work was assessing the influence of maternal breastfeeding in the transversal growth of the maxilla and the presence of oral deforming habits. We made a transversal descriptive study where the total of the children (156) aged 2-5 years of the Day Care Center Días de la Infancia, health area Playa, in the period February 2007-February 2008. To collect the information we used a custom made survey. Data were processed in tables and graphics. We used the statistic analysis to establish relations of dependence among the studied variables. 56,41 per cent of the children were breastfed for a period of less than 6 months. The transversal micrognathism was present in an equal percentage. Only 23,08 per cent of the children did not have deforming oral habits. 72,73 per cent of the children that were breastfed for more than 6 months had an adequate transversal development of the maxilla, while 30,30 per cent was not involved in incorrect oral habits(AU)

Fetal micrognathia: objective assessment and associated anomalies on prenatal sonogram.

OBJECTIVE: To determine the accuracy and characteristics of prenatally detected fetal micrognathia. METHODS: A retrospective analysis of all pregnancies with the suspicion of fetal micrognathia was performed. The affected fetuses were reassessed by estimation of the inferior facial angle (IFA) and the frontal nasomental angle on stored gray scale images to objectively establish the diagnosis. RESULTS: Of the 28.935 ultrasounds (USs) reviewed, 58 cases were eligible and 4 were excluded because of inconclusive data. The mean values for IFA and frontal nasomental angle were 44.8° and 123.3°, respectively. In 33 cases, the pregnancy was terminated. Four fetuses died sub partu or immediately after birth, five were stillborn. Invasive testing in 40/54 cases revealed aneuploidies in 35%. Associated anomalies comprised musculoskeletal disorders (43%) and non-skeletal anomalies (15%). Less than one fifth (9/54) were alive beyond postnatal period. Four fetuses had an isolated micrognathia, one of which was found to have a cleft palate postnatally. CONCLUSION: The diagnosis of micrognathia has a crucial impact on both prenatal and postnatal outcomes of affected individuals due to its association with additional abnormalities. A detailed sonographic survey using objective criteria for defining micrognathia is mandatory. Once the diagnosis is confirmed, an intensive interdisciplinary counseling of the parents is needed.

Craniofacial growth disturbance is related to temporomandibular joint abnormality in patients with juvenile idiopathic arthritis, but normal facial profile was also found at the 27-year follow-up.

OBJECTIVES: To assess the long-term outcome of craniofacial morphology related to disease variables and temporomandibular joint (TMJ) involvement as demonstrated with computed tomography (CT) and magnetic resonance imaging (MRI) in adult patients with juvenile idiopathic arthritis (JIA). METHODS: Sixty of 103 patients participated in a re-examination on average 27 years after baseline. Craniofacial morphology, with emphasis on size and position of the mandible, was assessed in lateral cephalographic images and related to disease variables and TMJ involvement by CT and MRI. Definitions of craniofacial growth disturbances were based on measurements outside 2 SD from the mean of healthy adult controls. RESULTS: Sagittal craniofacial growth disturbances were found in 57% and micrognathia in 27% of the 60 patients. Of those with JIA TMJ involvement, 70% had some form of growth disturbance. Micrognathia occurred only in patients with bilateral TMJ involvement. The bilateral TMJ group had significantly different craniofacial morphology than healthy controls and patients without TMJ involvement. Growth disturbances and TMJ involvement were present in all subtypes of JIA, except for one subtype comprising one patient. Patients with growth disturbances had more severe disease than patients with normal craniofacial growth, regarding both present and previous disease activity. Unexpectedly, half of the patients without craniofacial growth disturbances also had TMJ involvement, many from before the age of 12. CONCLUSIONS: Craniofacial growth disturbances were found to be frequent in adult JIA patients, especially in those with bilateral TMJ involvement. However, growth disturbances did not always follow TMJ involvement, not even when affected early.

El SAHS en la edad pediátrica. Clínica, diagnóstico y tratamiento / No disponible

No disponible

Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia.

OBJECTIVE: To describe the clinical outcome of fetuses with the prenatal sonographic diagnosis of isolated micrognathia. METHODS: A retrospective review of fetuses and infants with the prenatal diagnosis of isolated micrognathia for April 1990 to August 2001 was undertaken. Isolated micrognathia was considered if no other anatomic, growth, or amniotic fluid abnormalities were detected by a detailed ultrasound examination. Sources of outcome data included maternal and neonatal medical records, prenatal genetics records, and karyotype results. RESULTS: Fifty-eight fetuses with the diagnosis of micrognathia were identified. Fifteen fetuses (26%) had isolated micrognathia by prenatal sonogram. After neonatal examination, 14 of 15 were found to have at least one additional abnormality. Eleven had a cleft of the soft and/or hard palate. Seven (54%) of 13 live-born neonates had mild to severe airway obstruction that required intervention. Four (31%) of 13 experienced feeding difficulties of varying duration. Follow-up data were available for 1 to 10 years. Eight (62%) of 13 children are reported to be doing well. Five (38%) of 13 children are reported to have mild to severe developmental delay. CONCLUSION: If micrognathia is the only sonographic finding identified, physicians and families should be prepared for possible respiratory difficulty at delivery, the presence of a cleft palate, and/or developmental delay.

A genetic follow-up study of 64 patients with the Pierre Robin complex.

A genetic follow-up study has been performed of 64 infants who were diagnosed as having Pierre Robin complex over a 23-year period in South Australia. Patients and their families were contacted, family history was obtained, and physical examinations were performed with an aim to detect heterogeneity and establish recurrence risks. In 16 deceased patients, detailed autopsy reports allowed the conclusion that 12 (70%) had an underlying syndrome. Twelve of the 47 living patients (26%) were diagnosed as having an underlying syndrome, the most common of which was Stickler syndrome (6 cases). In most cases separation of syndromic cases from the nonsyndromic cases was possible in the neonatal period. In the 34 patients without an underlying syndrome, study of pregnancy and birth details did not reveal any distinctive etiologic factors. There was no recurrence in sibs of this group of patients with nonsyndromic Pierre Robin complex.

Síndrome de Hallermann*Streiff*Francois: a propósito de 7 casos

En el servicio de Oftalmología del Complejo Hospitalario `Daniel Alcides Carrión' del Callao, entre los años 1981 y 1983 han sido estudiados 7 casos portadores del síndrome Hallerman-Streiff-Francois. Este síndrome está caracterizado por discefalia con cara de pájaro, anomalías dentales, nanismo proporcionado, hipotricosis, atrofia de piel, microftalmía y catarata congénita bilateral. De ellos, 2 casos asistieron espontáneamente al servicio, 4 proceden del Centro de Educación Especial ` San Francisco de Asís', 1 procedente del centro de Educación Especial `Santa Lucía'. Estos dos últimos centros educativos están dedicados a la enseñanza de niños con ceguera y visión subnormal. En todos ellos se ha practicado examen clínico general y estudio oftalmológico, prestando especial atención a los antecedentes personales y familiares