Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second-trimester using chromosomal microarray analysis.

BACKGROUND: Pathogenic copy number variants (pCNVs) are associated with fetal ultrasound anomalies, which can be efficiently identified through chromosomal microarray analysis (CMA). The primary objective of the present study was to enhance understanding of the genotype-phenotype correlation in fetuses exhibiting absent or hypoplastic nasal bones using CMA. METHODS: Enrolled in the present study were 94 cases of fetuses with absent/hypoplastic nasal bone, which were divided into an isolated absent/hypoplastic nasal bone group (n = 49) and a non-isolated group (n = 45). All pregnant women enrolled in the study underwent karyotype analysis and CMA to assess chromosomal abnormalities in the fetuses. RESULTS: Karyotype analysis and CMA detection were successfully performed in all cases. The results of karyotype and CMA indicate the presence of 11 cases of chromosome aneuploidy, with trisomy 21 being the most prevalent among them. A small supernumerary marker chromosome (sSMC) detected by karyotype analysis was further interpreted as a pCNV by CMA. Additionally, CMA detection elicited three cases of pCNVs, despite normal findings in their karyotype analysis results. Among them, one case of Roche translocation was identified to be a UPD in chromosome 15 with a low proportion of trisomy 15. Further, a significant difference in the detection rate of pCNVs was observed between non-isolated and isolated absent/hypoplastic nasal bone (24.44% vs. 8.16%, p < .05). CONCLUSION: The present study enhances the utility of CMA in diagnosing the etiology of absent or hypoplastic nasal bone in fetuses. Further, isolated cases of absent or hypoplastic nasal bone strongly suggest the presence of chromosomal abnormalities, necessitating genetic evaluation through CMA.

Absent or hypoplastic nasal bone: What to tell the prospective parents?

BACKGROUND: Absent or hypoplastic nasal bone (AHNB) on first or second-trimester ultrasonography (USG) is an important soft marker of Down syndrome. However, due to its varied incidence in euploid and aneuploid fetuses, there is always a dilemma of whether to go for invasive fetal testing for isolated AHNB. This study aims to assess outcomes specifically within the context of Indian ethnicity women. MATERIALS AND METHODS: This was a prospective observational study. All patients who reported with AHNB in the first- or second-trimester USG were included. Genetic counseling was done, and noninvasive and invasive testing was offered. Chromosomal anomalies were meticulously recorded, and pregnancy was monitored. RESULTS: The incidence of AHNB in our study was 1.16% (47/4051). Out of 47 women with AHNB, the isolated condition was seen in 32 (0.78%) cases, while AHNB with structural anomalies was seen in nine cases (0.22%). Thirty-nine women opted for invasive testing. Six out of 47 had aneuploidy (12.7%), while two euploid cases (4.25%) developed nonimmune hydrops. The prevalence of Down syndrome in fetuses with AHNB was 8.5% (4/47) and 0.42% (17/4004) in fetuses with nasal bone present. This difference was statistically significant (p = .001). CONCLUSION: The results indicate that isolated AHNB cases should be followed by a comprehensive anomaly scan rather than immediately recommending invasive testing. However, invasive testing is required when AHNB is associated with other soft markers or abnormalities. As chromosomal microarray is more sensitive than standard karyotype in detecting chromosomal aberrations, it should be chosen over karyotype.

Residual risk of clinically significant copy number variations in fetuses with nasal bone absence or hypoplasia after excluding non-invasive prenatal screening-detectable findings.

BACKGROUND: It remains controversial whether prenatal screening or diagnostic testing should be offered to fetuses with nasal bone (NB) absence or hypoplasia, and there are no studies comparing the yield of chromosomal microarray analysis (CMA) to non-invasive prenatal screening (NIPS). The aim of this study was to evaluate the residual risk of clinically significant copy number variations (CNVs) in fetuses with NB absence or hypoplasia after excluding theoretically NIPS-detectable abnormalities, and to assess their clinical outcomes. METHODS: This prospective study encompassed 400 fetuses with NB absence or hypoplasia undergoing CMA testing between 2015 and 2022. Clinically significant CMA findings were categorized into three subgroups, including three-NIPS-detectable (trisomies 21, 18 and 13), five-NIPS-detectable (trisomies 21, 18 and 13 and sex chromosome aneuploidies) and genome-wide NIPS-detectable (variants over 7 Mb). We calculated the theoretical residual risk and compared it with the results of a control cohort of low-risk pregnancies. We further evaluated their clinical outcomes. RESULTS: The overall diagnostic yield in our cohort was 7.8% (31/400). The detection rate of clinically significant CMA findings in fetuses with non-isolated NB absence or hypoplasia was significantly higher than that in fetuses with isolated NB absence or hypoplasia (20.0% vs. 6.6%, P =.005). The theoretical residual risks in all NIPS models were significantly higher when compared with the control cohort. The normal infant rate in fetuses with normal CMA results was 97.9% (323/330), and a significant higher incidence was observed in fetuses with isolated NB absence or hypoplasia compared with non-isolated NB absence or hypoplasia (98.4% vs. 91.7%, P =.028). CONCLUSIONS: The residual risk of clinically significant CNVs in fetuses with NB absence or hypoplasia following the exclusion of theoretically NIPS-detectable findings was higher than that in low-risk pregnancies. This risk should be considered in genetic counseling to make a more comprehensive and precise choice regarding prenatal genetic testing.

Displasia frontonasal / Frontonasal dysplasia

Los trastornos del desarrollo son aquellos padecimientos que se manifiestan por defectos en la embriogénesis de la región afectada. La cara del ser humano comienza su formación alrededor de la cuarta semana de vida intrauterina y se manifiesta gracias a la fusión de cinco prominencias: dos pares conocidas como maxilar y mandibular, y una impar conocida como frontonasal. Cuando esta fusión no se lleva a cabo de una forma óptima, aparecen numerosas alteraciones del desarrollo como el labio y paladar hendido, y la displasia frontonasal. La displasia frontonasal produce frecuentemente afecciones oculares, nasales y orales. Dentro de las manifestaciones orales destacan una forma atípica de hendidura labial o palatina, afecciones dentales y alteraciones en el crecimiento de la cara. Dada la gran relación que este padecimiento tiene con la cavidad oral resulta importante que el odontólogo conozca la etiología y las características clínicas de este trastorno (AU)

Developmental disorders are those conditions that are manifested by defects in the embryogenesis of the affected region. The human face begins its formation around the fourth week of intrauterine life and is manifested thanks to the fusion of five prominences: two pairs known as maxillary and mandibular and odd one known as frontonasal. When this fusion is not carried out in an optimal way, numerous developmental alterations appear, such as cleft lip and palate and frontonasal dysplasia. Frontonasal dysplasia frequently produces ocular, nasal and oral affections. Among the oral manifestations, and atypical form of clef lip and/or palate, dental affections and alterations in the growth of the face stand out. Given the great relationship that this condition has with the oral cavity, it is important for the dentist to know the etiology and clinical characteristics of this disorder (AU)

Nasal septum deviation and inferior nasal concha bone hypertrophy in class III facial deformity / Desviación del septum nasal e hipertrofia de la concha nasal inferior en deformidad facial clase III

SUMMARY: The aim of this research was to analyze the morphology of the nasal septum and inferior nasal concha bone in class III facial deformities prior to orthodontic treatment in orthognathic surgery candidates. 40 subjects were included in this research. The inclusion criteria were an Angle class III, negative overjet and SNA angle less than 80º. Patients with facial asymmetry, facial trauma or who had undergone maxillofacial or ENT procedures were excluded. CBCT images were obtained for all the patients and the nasal septum deviation, morphology of inferior nasal concha bone and ostium of the maxillary sinus were analyzed and related to the complexity of the facial deformity expressed by the ANB angle and dental relations. The measurement was standardized by ICC and the data was analyzed using a chi square test and Spearman's coefficient with a p value < 0.005 for statistical significance. Nasal septal deviation was observed in 77.5 %. The deviation angle was 13.28º (±4.68º) and the distance from the midline to the most deviated septum was 5.56 mm (±1.8 mm) with no statistical relation to the complexity of the facial deformity. The deviated nasal septum showed inferior nasal concha bone hypertrophy on the concave side of the nasal septum deviation (p=0.049). The open or closed condition of the maxillary sinus ostium was not related to any conditions in the septum or complexity of the facial deformity. Inferior nasal concha bone hypertrophy could be related to nasal septal deviation. The nasal condition in a class III facial deformity could not differ from the general population; careful in orthognathic surgery as to be assume in the Le Fort I Osteotomy and nasal approach related to nasal septum deviation and inferior nasal concha bone.

RESUMEN: El objetivo de esta investigación fue analizar la morfología del septum y la concha nasal inferior en sujetos con deformidad facial clase III previo al tratamiento de ortodoncia preparatorio para cirugía ortognática. Fueron incluidos 40 sujetos en esta investigación. Los criterios de inclusión fueron la de presentar una clase III de Angle, overjet negativo y ángulo SNA menor que 80º. Sujetos con asimetría facial, trauma facial o quienes presentaron algún tipo de procedimiento maxilofacial o de otorrinolaringología fueron excluidos. Tomografía computadorizada cone beam (CBCT) fueron obtenidas para todos los sujetos donde le morfología del septum nasal, morfología de la concha nasal inferior y el ostium del seno maxilar fueron analizados y relacionados con la complejidad de la deformidad facial expresada como ángulo ANB y relaciones dentales. Las medidas fueron estandarizadas por el ICC y los datos fueron analizados utilizando la prueba chi cuadrado y coeficiente de Spearman con un valor de p<0,05 para obtener relaciones significativas. La desviación del septum nasal se observó en el 77,5 %; el ángulo de desvío fue de 13,28º (±4,68º) y la distancia de desvío del septum desde la línea media fue de 5,56 mm (±1,8 mm) sin diferencias estadísticas en relación a la complejidad de la deformidad. El desvío de septum nasal demostró hipertrofia de la concha nsal inferior en el lado cóncavo del septum desviado (p=0,049). La condición de ostium abierto o cerrado no fue relacionado con ninguna condición del septum nasal o complejidad de la deformidad facial. La hipertrofia de la concha nasal inferior se relacionó con el desvío de septum nasal. La condición nasal en deformidad facial de clase III no es diferente de la observada en la población general; cuidados deben ser realizados en cirugía ortognática para el desarrollo de la osteotomía de Le Fort I y aproximación nasal en relación al desvío de septum y probable alteración de la concha nasal inferior.

Congenital nasal pyriform aperture stenosis: Diagnosis, management and technical considerations / Estenosis de la apertura piriforme nasal: diagnóstico, tratamiento y consideraciones técnicas

BACKGROUND: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal obstruction in neonates with respiratory distress manifestations. Diagnosis is made with craniofacial computed tomography, prompt and precise treatment creates good outcomes in these patients. AIM: To present our experience in diagnosis and management considerations with this rare pathology and a case series of our surgically managed patients. METHODS: A retrospective, analytical study of CNPAS patients surgically managed over a period of seven years. Evaluation and follow up was reviewed. RESULTS: Thirteen patients were evaluated; pyriform aperture mean width was 5.5mm. Of these patients, 31% also had Congenital Midnasal Stenosis. Medical treatment failed for all the patients and they required surgical enlargement of the pyriform aperture. No complications were seen and all patients improved in symptoms and development. CONCLUSIONS: Congenital nasal obstruction can be fatal in new-borns, CNPAS is a rare differential diagnosis that must be completely evaluated, properly treated with conservative management and if it fails, with well-planned and executed surgery. Follow-up shows high rates of success

ANTECEDENTES: a estenosis congénita de la apertura piriforme nasal (CNPAS, por sus siglas en inglés) es una causa poco frecuente de obstrucción nasal en los recién nacidos, con manifestaciones de dificultad respiratoria. El diagnóstico se realiza por tomografía computarizada cráneo-facial. Se requiere un tratamiento rápido y preciso para mejorar los resultados en estos pacientes. OBJETIVOS: Presentar nuestra experiencia en el diagnóstico y las consideraciones del tratamiento de esta enfermedad. Se evalúa una serie de casos de pacientes tratados quirúrgicamente. MÉTODOS: Estudio retrospectivo y analítico de pacientes con CNPAS tratados quirúrgicamente en un período de 7 años. Revisión de la evaluación y seguimiento. RESULTADOS: Se evaluaron 13 pacientes; la anchura media de la apertura piriforme fue de 5,5mm. El 31% de los pacientes también tenían estenosis nasal media congénita. Todos los pacientes fallaron al tratamiento médico y requirieron agrandamiento quirúrgico de la apertura piriforme. No se observaron complicaciones en los pacientes, mejorando los síntomas y el desarrollo. CONCLUSIONES: La obstrucción nasal congénita puede ser letal en los recién nacidos, siendo la CNPAS un diagnóstico diferencial poco frecuente que debe evaluarse por completo, y tratarse adecuadamente de manera conservadora; en caso de fallo, debe realizarse cirugía bien planificada y ejecutada. El seguimiento muestra altas tasas de éxito

Frontoethmoidal encephalocele. Report of a case / Encefalocele frontoetmoidal. A propósito de un caso

Encephaloceles are uncommon in western countries and most cases are located in the occipital bone. Frontal encephaloceles may involve the ethmoid bone, nasal bones and/or the orbits. Surgical repair is complex and usually requires a multidisciplinary approach. The goal of the surgery is to reconstruct the normal anatomy, to achieve a good cosmetic repair and to avoid a cerebrospinal fluid leak. We present a case of a patient with a large congenital frontoethmoidal encephalocele. Autologous calvarian bone grafts were used to repair of encephalocele defect and for the reconstruction of the frontonasal area. The defect closure and the cosmetic result were satisfactory, and the only complication detected was the infection of a previously performed ventriculoperitoneal shunt. A description of the technique and a review of the literature are presented

Los encefaloceles son infrecuentes en los países occidentales y su localización más frecuente es occipital. Los encefaloceles frontales pueden afectar hueso etmoidal, frontal y/o órbitas. La reparación quirúrgica es compleja y habitualmente precisa de un abordaje multidisciplinar. El objetivo de la cirugía es reconstruir la anatomía del paciente con un buen resultado estético, y evitar la fístula de líquido cefalorraquídeo. Se presenta un caso de un gran encefalocele frontoetmoidal. El encefalocele fue reparado y la reconstrucción ósea se realizó con hueso autólogo de la capota craneal. El cierre y el resultado cosmético fueron buenos y la única complicación fue una infección posquirúrgica. Se describe la técnica y se revisa la literatura publicada al respecto

Incisivo central único de la línea media del maxilar, holoprosencefalia y estenosis congènita del orificio nasal anterior en un recién nacido prematuro: a propósito de un caso / Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report

El síndrome del incisivo central único de la línea media del maxilar es un trastorno raro que implica anomalías de la línea media, como holoprosencefalia, anomalías de las fosas nasales, fisura palatina, labio leporino, hipotelorismo, microcefalia y panhipopituitarismo. La estenosis congénita del orificio nasal anterior es una causa mortal de dificultad respiratoria neonatal debido al estrechamiento del orificio nasal anterior, y podría confundirse con la atresia de coanas. En este informe, presentamos el caso de un recién nacido con síndrome del incisivo central único de la línea media del maxilar acompañado de otras anomalías, tales como holoprosencefalia, estenosis del orificio nasal anterior, microcefalia y panhipopituitarismo. El cariotipado mostró una deleción heterocigota en el gen SIX3 en la región 2p21, que produjo una forma más grave de holoprosencefalia.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Chromosomal analysis showed heterozygous SIX3 gene deletion at 2p21 region resulting in a more severe form of holoprosencephaly.

Correção do dorso nasal baixo ou em sela com enxerto composto de cartilagem conchal fragmentada fixa ao pericôndrio envolvidos à fáscia da mastóide / Correction of low or saddle nasal dorsum with a composite graft of fragmented conchal cartilage fixed to the perichondrium wrapped in mastoid fascia

Introdução: A rinoplastia de aumento em muitos casos torna-se mais difícil que a rinoplastia de redução. Enxertos dorsais sólidos realizados com cartilagem costal têm sido muito utilizados para aumento dorsal, porém estão associados com altos índices de revisão, por isso, muitos autores passaram a utilizar cartilagem em cubos envoltos por fáscia. A fáscia da mastoide, conectada ao pericôndrio da cartilagem conchal auricular, pode formar um enxerto composto para o aumento do dorso nasal, sendo também uma opção de tratamento. O objetivo é demonstrar a possibilidade do uso de cartilagem da concha auricular fragmentada fixa ao seu pericôndrio, e envoltos na fáscia da mastoide, formando um enxerto composto para aumento do dorso nasal. Métodos: Tratase de um estudo retrospectivo de 9 pacientes operados entre 2012 e 2016 no Hospital de Base da Faculdade de Medicina de São José do Rio Preto, em que foi realizado aumento do dorso nasal com cartilagem conchal fragmentada fixa ao seu pericôndrio e envolto à fáscia da mastoide. Resultados: Os pacientes foram acompanhados de 6 a 48 meses. Foram questionados quanto à satisfação do procedimento nasal e sensibilidade auricular, com avaliação positiva dos pacientes e cirurgiões. Conclusão: A cartilagem conchal parece ser uma alternativa de grande valia para procedimentos de aumento de dorso nasal. Esta cartilagem envolta com fáscia da mastoide parece ser uma alternativa vantajosa em comparação ao uso de outras fáscias, com baixa morbidade e taxa de complicações, podendo ser uma grande opção para tratamento do nariz em sela.

Introduction: In many cases, augmentation rhinoplasty is more difficult than reduction rhinoplasty. Solid dorsal grafts performed with costal cartilage have been widely used for dorsal augmentation; however, they are associated with high rates of revision. Thus, many authors began to use cartilage cut into cubes wrapped in fascia. The mastoid fascia, connected to the perichondrium of the auricular conchal cartilage can form a composite graft to augment the nasal dorsum, which is also a treatment option. The objective is to demonstrate the possibility of using fragmented auricular conchal cartilage fixed to its perichondrium and wrapped in mastoid fascia to form a composite graft for augmentation of the nasal dorsum. Methods: This is a retrospective study of 9 patients who underwent operation between 2012 and 2016 at the Base Hospital of the Faculty of Medicine of São José do Rio Preto, in which the nasal dorsum was augmented with fragmented conchal cartilage fixed to its perichondrium and wrapped in the mastoid fascia. Results: The patients were followed up for up 6 to 48 months. They were questioned about their satisfaction with the nasal procedure and hearing sensitivity, and provided a positive evaluation of the surgeons. Conclusion: The conchal cartilage seems a highly valuable alternative graft for nasal dorsum augmentation procedures. The technique of using cartilage wrapped in mastoid fascia seems to be an advantageous alternative when compared with those using cartilage wrapped in other fasciae: it has low morbidity and complications rates and can be a great option for saddle nose treatment.

Tratamento estético da columela nasal: columela oculta e columela pendente / Aesthetic treatment of retracted and hanging nasal columellas

Os autores revelam, no presente trabalho, suas abordagens frente às alterações estéticas da columela nasal, mais observadas em sua prática clínica, a columela oculta e a columela pendente. Para a columela oculta os autores descrevem o uso de um retalho condro-mucopericondral do septo nasal como escolha preferencial. Para o tratamento da columela pendente os autores utilizam as abordagens, direta e indireta, descritas por Randall, nos casos leves a moderados, e para os casos mais acentuados utilizam uma associação de táticas além de uma modificação do que é descrito por Armstrong e Joseph. Suas opções de tratamento são confrontadas com o que há descrito na literatura da especialidade e seus resultados comparativos são apresentados.

This study discusses approaches for aesthetic correction of nasal columellas, i.e. retracted and hanging columellas, most commonly observed in clinical practice. We describe a chondral-mucoperichondrial nasal septal flap and direct or indirect approaches described by Randall as our preferred procedures to correct retracted and mild to moderate hanging columella, respectively. A combination of procedures is used in more severe cases, in addition to modified Armstrong and Joseph's approaches. These treatment options are compared to other literature reports on this specialty.

Cribado contingente para la detección de trisomía 21 en el primer trimestre de la gestación mediante marcadores ecográficos de segunda línea / Contingent screening for the detection of trisomy 21 in the first trimester of pregnancy by secondary ultrasound markers

Objetivos. Valorar la eficacia del cribado contingente para la detección de trisomía 21 mediante marcadores ecográficos del primer trimestre (hueso nasal, flujo en ductus venoso e insuficiencia tricuspídea) y comprobar su capacidad para mejorar los resultados del cribado combinado y reducir las pruebas invasivas. Material y métodos. Se realizó una segunda valoración ecográfica en el primer trimestre del embarazo para evaluar los marcadores ecográficos de segunda línea en 236 fetos con un riesgo para trisomía 21 superior a 1/1.000 tras el cribado combinado. Resultados. Durante el año 2010, se completaron 2.483 test de cribado combinado. Se evaluaron marcadores ecográficos en 236 gestantes. Se observaron 12 casos de trisomía 21. Se observó la ausencia de hueso nasal en el 60% de los fetos con trisomía 21 evaluados, flujo ausente o reverso durante la contracción auricular en el ductus venoso en el 33,3% e insuficiencia tricuspídea en el 66,7%. En fetos no afectos de trisomía 21, los resultados fueron del 1,6, 1,8 y 3,2% respectivamente. La implantación de un cribado contingente permitiría detectar el 91,7% de los fetos con trisomía 21, con una tasa de falsos positivos del 1,53% y reduciría el número de amniocentesis de 148 a 107. Conclusiones. La propuesta de un cribado contingente es una alternativa eficaz y segura, ya que permite reducir la tasa de falsos positivos de 3,16 a 1,53%, sin afectar la tasa de detección de trisomía 21 (91,7%) y contribuye a disminuir las pruebas invasivas, lo que repercutiría en menores pérdidas fetales y costes económicos(AU)

Objectives. To assess the effectiveness of contingent screening for the detection of trisomy 21 by first trimester ultrasound markers (nasal bone, ductus venosus flow and tricuspid regurgitation) and to evaluate its ability to improve the results of combined screening and reduce invasive testing. Material and methods. A second ultrasound evaluation was performed to assess secondary ultrasound markers at the first trimester of pregnancy in 236 fetuses with a risk for trisomy 21 greater than 1/1,000 after combined screening. Results. During 2010, 2483 combined screening tests were completed. Ultrasound markers were evaluated in 236 pregnant women. There were 12 cases of trisomy 21. The absence of nasal bone was found in 60% of the fetuses with evaluation of trisomy 21, absent or reverse flow during atrial contraction in the ductus venosus in 33.3%, and tricuspid regurgitation in 66.7%. In fetuses without trisomy 21, the results were 1.6, 1.8 and 3.2%, respectively. The implementation of contingent screening would detect 91.7% of fetuses with trisomy 21, with a false-positive rate of 1.53% and would reduce the number of amniocenteses from 148 to 107. Conclusions. The proposed contingent screening is an effective and safe alternative, allowing the false-positive rate to be reduced from 3.16% to 1.53%, without affecting the detection rate for trisomy 21 (91.7%). Contingent screening would also help to reduce invasive tests, which would result in fewer fetal losses and lower economic costs(AU)

Estenosis congénita del orificio piriforme y megaincisivo central único / Congenital nasal pyriform aperture stenosis and solitary maxillary central incisor: Case report

La estenosis congénita del orificio piriforme es una anomalía descrita recientemente en la literatura, provocada por un crecimiento excesivo de la apófisis ascendente del hueso maxilar, pudiendo ocasionar problemas respiratorios y alimenticios desde el periodo neonatal. Presentamos el caso de una recién nacida diagnosticada de esta patología asociada a un megaincisivo central único. La actitud elegida fue la observación, junto con la aplicación de medidas conservadoras. Un año después del diagnóstico, la paciente tiene un adecuado desarrollo ponderoestatural (AU)

Congenital nasal pyriform aperture stenosis has recently been described in the literature. It is caused by an upward overgrowth of the maxillary bone apophysis and may cause breathing and feeding problems from the neonatal period on. We present the case of a newborn girl diagnosed with this pathology associated with a solitary maxillary central incisor. Observation with conservative measures was the attitude chosen. One year after diagnosis the patient shows adequate height and weight development (AU)

Screening de aneuploidías: presencia de hueso nasal entre las 11-14 semanas: una técnica del nuevo milenio / Screening for aneuploids: presence of nasal bone between weeks 11 and 14: a technique for the new millenium

El screening de aneupliodías antenatal durante el primer trimestre ha evolucionado radicalmente durante los últimos años, asociando métodos tanto bioquímicos como ecográficos. El screening bioquímico al utilizar Pregnancy-associated plasma protein-A (PAPP-A) y la subunidad _-HCG libre presenta una sensibilidad para trisomía 21 de un 40 por ciento y 35 por ciento respectivamente. Sin embargo presenta una tasa de falsos positivos de 5 por ciento. En la búsqueda de mejorar la sensibilidad y disminuir la tasa de falsos positivos han aparecido nuevas técnicas ecográficas. La medición de la translucencia retronucal entre las semanas 11 y 14, mejoró la sensibilidad a un 77 por ciento como marcador único, manteniendo la tasa de falsos positivos. Una nueva técnica es la presencia de hueso nasal entre las semanas 11 y 14, avalada por estudios anatomo-radiológicos. Esta técnica tiene una sensibilidad 60 a 80 por ciento para trisomía 21, con una tasa de falsos positivos de 0.25 a 2,8 por ciento y con la consiguiente disminución de procedimientos invasivos. La técnica es aplicable tanto vía abdominal como transvaginal con una rápida curva de aprendizaje.

Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia

Considerando a raridade da displasia frontonasal (DF) e os poucos estudos sobre esta condição clínica usando ressonância magnética (RM), descrevemos os resultados da análise angular do corpo caloso em 18 indivíduos com DF (7 homens, 11 mulheres), usando um método de fácil reprodução. O Grupo I foi formado por 12 indivíduos com DF isolada e o Grupo II, por 6 portadores de DF sindrômica de etiologia desconhecida. Não houve diferença entre os grupos, e os dados são apresentados em conjunto. Comparando com o grupo controle, houve aumento significativo do ângulo alfa e redução dos ângulos beta e gama (p<0,05) Os ângulos alfa e gama expressam a relação entre a porção anterior do corpo caloso e do piso do 4º ventrículo. Esses achados radiológicos poderiam ocorrer secundariamente à falência do desenvolvimento da cápsula nasal. Assim, as anomalias angulares no corpo caloso poderiam ser um achado usual, e não fortuito, na DF.

Osteotomías laterales externas en rinoplastia para la corrección de las desviaciones de dorso óseo / External lateral osteotomies in rinoplasty for the corrections of nasal dorsal desviations

Se revisan 45 casos de septorrinoplastia para la corrección de desviaciones del dorso óseo, realizadas desde el año 1993 hasta el 2001, en las que se ha utilizado la técnica de osteotomías laterales por vía externas. El 67% de los casos eran hombres, y el 33 per cent mujeres. La media de edad era de 25 años. En todos los casos se realizó una septoplastia y se corrigió la desviación ósea mediante osteotomías mediales realizadas a través de una incisión intercartilaginosa y osteotomías laterales por vía externa. Se realizó un seguimiento postoperatorio a 35 pacientes. De ellos, el 78% refirió encontrarse subjetivamente mejor que previamente a la cirugía, y el 22% mucho mejor. Un paciente tuvo que ser reintervenido por presentar una fractura nasal traumática posteriormente a la rinoplastia. Consideramos que esta técnica ofrece importantes ventajas, con mayor control del trazo de fractura, menor incidencia de techo abierto y de escalón lateral, sin provocar secuelas cicatriciales (AU)

We present a revision of 45 patients with nasal deviation operated on between 1993 and 2001. Septorhinoplasties were done in all cases using the external lateral nasal osteotomies technique. 67% of our patients were male and 33% were female with a mean age of 25. In all cases a septoplasty was performed. To correct nasal deviation, medial osteotomies through an intercartilaginous approach and external lateral nasal osteotomies were done. We did a postoperative follow-up of 35 patients. In terms of patient satisfaction, 78% of them felt that their nasal appearance had improved after surgery, and 22% felt that they had a great improvement. One case had to be reoperated on because of a traumatic nasal fracture after surgery. We believe this technique offers important advantages, such as: an excellent control of the fracture line, fewer incidences of open roof and lateral step, without causing visible scars (AU)

Síndrome de Binder con manifestaciones ortopédicas asociadas / Binders Syndrome with associated orthopedic malformations

El síndrome de Binder o Displasia Nasomaxilar es una curiosa enfermedad caracterizada por una hipoplasia del tercio medio facial que produce cambios mandibulares compensatorios que traen como resultado la aparición de una maloclusión clase III de Angle. Se han descrito anomalías raquídeas asociadas a esta enfermedad en las personas que la padecen. Por lo interesante que resulta el tema nos proponemos realizar una revisión de la literatura y mostrar una paciente afectada por esta enfermedad, en la que además, se ponen de manifiesto alteraciones asociadas en el raquis cervical y lumbar(AU)

Evaluación quirúrgica y evaluación de las septoplastias en el Hospital Base Goyeneche 1980 a 1995

El presente estudio se realizó con el objeto de evaluar a los pacientes intervenidos quirúrgicamente por desviación septal en el Servicio de Otorrinolaringología del Hospital Goyeneche de Arequipa entre los años 1980 a 1995. El compromiso del tabique nasal tuvo mayor incidencia en el sexo masculino, en su mayoría estudiantes, siendo la causa preponderante la traumática. El cuadro clínico se caracterizó por obstrucción nasal, además de presentar concominantemente deformidad de la pirámide nasal e hipertrofia de cornetes y, algunos casos acompañados de otra patología respiratoria. La desviación septal se localizó mayormente en el cartílago cuadrangular siendo el tipo de deformidad más frecuentemente la desviación. En el acto operatorio la anestesia más utilizada fue la local, al igual que las incisiones de Killian y Cottle en las septoplastías. la evolución fue favorable en su mayoría

Síndrome CCC (cuello corto, campodactilia, cardiopatía) con variabilidad: nuevo síndrome autosómico dominante / Syndrome CCC (short neck, camptodactily, cardiopathy) with variability expression: a new autosomic dominant syndrome

Se presenta el cuadro clínico no descrito anteriormente de una familia en la que se encontraron 16 personas que mostraban, en forma constante, cuello corto y ancho, cardiopatía a expensas del ventrículo izquierdo y camptodactilia con hipoplasia de los pliegues de flexión. Todos tenían talla baja con variabilidad en su expresión. Otros datos no constantes fueron paladar alto, depresión del puente nasal, micrognatia, cúbito varo, posición dental anormal e hiperplasia gingival. Al tomar en cuenta las malformaciones constantes se le ha denominado "sindrome CCC", siglas que corresponden a cuello corto, cardiopatía y camptodactilia.

Saddle-nose and oriental nose treatment, upon external incision

The authors propose to treat the saddle nose by means of an external incision. 3 cases with varied ethiologies and the alternatives used for their correction are discussed