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)

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).

Soft markers were originally introduced to prenatal ultrasonography to improve the detection of trisomy 21 over that achievable with age-based and serum screening strategies. As prenatal genetic screening strategies have greatly evolved in the last 2 decades, the relative importance of soft markers has shifted. The purpose of this document is to discuss the recommended evaluation and management of isolated soft markers in the context of current maternal serum screening and cell-free DNA screening options. In this document, "isolated" is used to describe a soft marker that has been identified in the absence of any fetal structural anomaly, growth restriction, or additional soft marker following a detailed obstetrical ultrasound examination. In this document, "serum screening methods" refers to all maternal screening strategies, including first-trimester screen, integrated screen, sequential screen, contingent screen, or quad screen. The Society for Maternal-Fetal Medicine recommends the following approach to the evaluation and management of isolated soft markers: (1) we do not recommend diagnostic testing for aneuploidy solely for the evaluation of an isolated soft marker following a negative serum or cell-free DNA screening result (GRADE 1B); (2) for pregnant people with no previous aneuploidy screening and isolated echogenic intracardiac focus, echogenic bowel, urinary tract dilation, or shortened humerus, femur, or both, we recommend counseling to estimate the probability of trisomy 21 and a discussion of options for noninvasive aneuploidy screening with cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive (GRADE 1B); (3) for pregnant people with no previous aneuploidy screening and isolated thickened nuchal fold or isolated absent or hypoplastic nasal bone, we recommend counseling to estimate the probability of trisomy 21 and a discussion of options for noninvasive aneuploidy screening through cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive or diagnostic testing via amniocentesis, depending on clinical circumstances and patient preference (GRADE 1B); (4) for pregnant people with no previous aneuploidy screening and isolated choroid plexus cysts, we recommend counseling to estimate the probability of trisomy 18 and a discussion of options for noninvasive aneuploidy screening with cell-free DNA or quad screen if cell-free DNA is unavailable or cost-prohibitive (GRADE 1C); (5) for pregnant people with negative serum or cell-free DNA screening results and an isolated echogenic intracardiac focus, we recommend no further evaluation as this finding is a normal variant of no clinical importance with no indication for fetal echocardiography, follow-up ultrasound imaging, or postnatal evaluation (GRADE 1B); (6) for pregnant people with negative serum or cell-free DNA screening results and isolated fetal echogenic bowel, urinary tract dilation, or shortened humerus, femur, or both, we recommend no further aneuploidy evaluation (GRADE 1B); (7) for pregnant people with negative serum screening results and isolated thickened nuchal fold or absent or hypoplastic nasal bone, we recommend counseling to estimate the probability of trisomy 21 and discussion of options for no further aneuploidy evaluation, noninvasive aneuploidy screening through cell-free DNA, or diagnostic testing via amniocentesis, depending on clinical circumstances and patient preference (GRADE 1B); (8) for pregnant people with negative cell-free DNA screening results and isolated thickened nuchal fold or absent or hypoplastic nasal bone, we recommend no further aneuploidy evaluation (GRADE 1B); (9) for pregnant people with negative serum or cell-free DNA screening results and isolated choroid plexus cysts, we recommend no further aneuploidy evaluation, as this finding is a normal variant of no clinical importance with no indication for follow-up ultrasound imaging or postnatal evaluation (GRADE 1C); (10) for fetuses with isolated echogenic bowel, we recommend an evaluation for cystic fibrosis and fetal cytomegalovirus infection and a third-trimester ultrasound examination for reassessment and evaluation of growth (GRADE 1C); (11) for fetuses with an isolated single umbilical artery, we recommend no additional evaluation for aneuploidy, regardless of whether results of previous aneuploidy screening were low risk or testing was declined. We recommend a third-trimester ultrasound examination to evaluate growth and consideration of weekly antenatal fetal surveillance beginning at 36 0/7 weeks of gestation (GRADE 1C); (12) for fetuses with isolated urinary tract dilation A1, we recommend an ultrasound examination at ≥32 weeks of gestation to determine if postnatal pediatric urology or nephrology follow-up is needed. For fetuses with urinary tract dilation A2-3, we recommend an individualized follow-up ultrasound assessment with planned postnatal follow-up (GRADE 1C); (13) for fetuses with isolated shortened humerus, femur, or both, we recommend a third-trimester ultrasound examination for reassessment and evaluation of growth (GRADE 1C).

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.

Selective Osteotomies to Correct Deviated Bony Vaults of Asian Noses.

BACKGROUND: Standard osteotomies for the correction of deviated noses are bilateral and comprise a combination of medial and lateral osteotomy procedures. However, their uniform application to the small/delicate Asian bony vault is inappropriate and often results in suboptimal outcomes. OBJECTIVES: This study describes how asymmetric bony pyramids were defined through 3-component analysis, which was then used to inform selective/individualized osteotomies. METHODS: Bony vault deviations were categorized after 3-component analysis in 117 patients seeking correction of a deviated nose. Selective osteotomies were applied accordingly. Pre- and postoperative photographs were compared and rated by 2 independent evaluators. Patients' subjective evaluations were also included. RESULTS: Selective osteotomies were possible in 79 (68%) out of 117 patients. Among the 79 study subjects, outcome ratings were excellent in 37 (47%), acceptable in 25 (32%), unsatisfactory in 8 (10%), and unspecified in 9 (11%). Unspecified cases aside, satisfactory correction was achieved in 88% (62/70 patients). Of the 54 patients who responded to telephone interviews, patient satisfaction was excellent in 43 (80%), improved in 10 (18.2%), and unchanged in 1 (1.8%). Follow-up of the 88% of patients with satisfactory correction showed a stable long-term outcome. CONCLUSIONS: Each bony vault in deviated noses is different, and thus, its correction must be individualized for each patient and for each side. The protocol described herein achieves a controlled correction of deviated bony vault. Restoration of bony pyramid symmetry via current techniques is best suited to short Asian bony vaults, where additional structural needs from routine nasal augmentation/lengthening are required.

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.

Is Osteoplasty With Unilateral Osteotomy Effective in the Correction of the Crooked Nose?

OBJECTIVE: The crooked nose is frequently observed, and a significant number of correction methods have previously been described. Nevertheless, the condition remains a challenging problem for rhinoplastic surgeons. Here, the authors present a technique that the authors have used to correct a crooked nose in selected patients. METHODS: A total of 23 patients underwent surgery for a C-shaped crooked nose, and were followed up for an average of 11.4 months. Pre- and postoperative photographs were taken, and these were analyzed to evaluate the results. RESULTS: Osteoplasty and unilateral osteotomy were carried out in all 23 patients and a spreader graft was contralaterally placed. Unilateral osteoplasty was conducted in 17 patients, while bilateral osteoplasty was performed in 6 patients. In 19 patients, a single spreader graft was sufficient, but it was necessary to use a double spreader graft in 4 patients. In summary, 23 C-shaped crooked noses were corrected with osteoplasty plus unilateral osteotomy. CONCLUSIONS: Osteoplasty plus unilateral osteotomy, combined with a contralateral spreader graft, is an efficient method that can be safely used in the correction of a C-shaped crooked nose.

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.

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

Chondrodysplasia Punctata: A Case Report of Fetal Warfarin Syndrome.

Chondrodysplasia punctata is abnormal calcification in the cartilage of developing bones and has been seen in association with deranged vitamin K metabolism. Warfarin, an oral anticoagulant acting on vitamin K dependent clotting factors is known to cause chondrodysplasia punctata. Despite the knowledge of the condition the management of patients with prosthetic heart valves might require use of the drug for anticoagulation. Here, we present a case of a fetal warfarin syndrome in a second born child of a 27 year lady under warfarin for prosthetic heart valve. The pregnancy was complicated by polyhydramnios in third trimester and terminated at term by normal vaginal delivery. The baby was well, except for facial dysmorphism in the form of depressed nasal bridge, narrow nares and suspected left choanal atresia. Radiograph revealed stippled ephiphysis of vertebra, femora and humera supporting diagnosis of fetal warfarin syndrome. The baby did not develop any perinatal complication and was discharged home.

Management of a Large Frontal Encephalocoele With Supraorbital Bar Remodeling and Advancement.

Of all the craniofacial abnormalities, facial clefts are the most disfiguring. Facial clefts are classified according to the affected anatomical area as described by Tessier. Through this classification, the location and extent of the cleft can be designated numerically.A 2-month-old male infant was referred to authors' craniofacial unit, from a hospital in a rural province of South Africa, with a problem of a supranasal encephalocoele. Bilateral raised eyebrows were noted as was a right-sided upper lid central third coloboma. Computed tomography and magnetic resonance imaging scans confirmed the presence of a supranasal encephalocoele with a large frontal bone defect and splayed nasal bones. Bilateral enlarged orbits were noted with tented orbital roofs that we classified as Tessier number 10 facial clefts. The child was booked for an encephalocoele excision and calvarial reconstruction at 4 months of age.As a result of the encephalocoele, the supraorbital bar with its adjacent nasal bones was cleaved in 2, resulting in a significant frontal bone defect. Osteotomies were performed to remove the supraorbital bar and nasal bones from the calvarium. The supraorbital bar segment was remodeled and plated with absorbable poly-L-lactic acid plates. Osteotomies of the nasal bones allowed them to be united centrally, also with absorbable plates. This entire construct was transferred and secured to the calvarium, but in a more caudal position thereby obliterating the frontal bone and Tessier number 10 facial cleft defects with a naturally contoured construct.

Osteoplasty in Crooked Nose Deformity: A Novel Approach.

BACKGROUND: Crooked nose deformity is one of the most difficult issues to correct by rhinoplasty, as it can result in undesired late sequelae. Revision rates are often high, and numerous operational techniques have been tested. This study describes a crooked nose rhinoplasty technique that reduces the need for a double osteotomy in the long nasal bone. METHODS: This study included 26 patients with an I-shaped crooked nose deformity. In the surgical correction of the crooked nose deformity, previously defined techniques were applied to the cartilage identically. However, the traditional double osteotomy of the long nasal bone was not performed. Instead, the bone protruding laterally from the long nasal bone was narrowed by rasping with a file or burr, and this section was delivered to the maxilla accordingly. Angle values were measured preoperatively and postoperatively. Two lines were used to measure the angle: The first was drawn from the midpoint of the glabella to the midpoint of the upper lip, while the second, representing the nasal dorsal axis, consisted of both the osseous and cartilaginous parts from the nasion to the anterior nasal spine. The angle between these two lines was taken as the angle of deviation from the median line. RESULTS: Postoperatively, patients' angle values were significantly smaller than preoperatively. After 1 year, no persistence was observed. CONCLUSION: In crooked nose deformity surgery, the osteoplasty technique applied to the lateral protrusion of the long nasal bone described here was as successful as a double osteotomy. Thus, certain complications of a double osteotomy can be avoided. In addition, as no greenstick fractures were induced, the long-term persistence risk was also reduced. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Nasal bone in screening for T21 at 11-13 + 6 weeks of gestation - a multicenter study.

OBJECTIVES: Trisomy 21 is one of the most common chromosomal defects diagnosed prenatally. Screening for Down syndrome is based on maternal age, measurement of crown-rump length, nuchal translucency and fetal heart rate, together with free ß-hCG and PAPP-A at 11 to 13 + 6 weeks. Introduction of additional ultrasound marker of trisomy 21 (evaluation of the nasal bone) may result in increased DR and decreased invasive diagnostic testing rates (FPR). MATERIAL AND METHODS: Ultrasound scan with NB evaluation was performed in 5814 fetuses during routine screening for chromosomal defects at 11 to 13 + 6 weeks of gestation. DR and FPR coefficients were calculated for 4 levels of risk as cut-off points for screening model 1, based on MA, NT, and first trimester biochemistry, as well as for screening model 2, based on MA, NT, first trimester biochemistry and NB. RESULTS: There were 5708 normal cases, 71 cases of trisomy 21 and 35 cases of other chromosomal defects. NB was absent in 46 (64.8%) cases and present in 25 (35.3%) cases of trisomy 21, comparing to present NB in 5463 (95.7%) and absent in 245 (4.3%) of normal cases. CONCLUSIONS: First-semester screening with additional NB assessment significantly increases the detection rate for trisomy 21 and decreases the rate of false-positive results. Adding NB evaluation at the risk level of 1:50 causes only a small increase in detection rate. Invasive procedures should be performed in that group regardless NB assessment.

The natural course of congenital nasal pyriform aperture stenosis.

OBJECTIVES/HYPOTHESIS: Patients with congenital nasal pyriform aperture stenosis (CNPAS) may become less symptomatic with age. Therefore, we aimed to develop a growth curve of the pyriform aperture so that a more comprehensive plan can be designed for CNPAS patients who show little response to conservative treatment. STUDY DESIGN: A single-institution study, retrospective review of CNPAS patients during the period November 1997 to December 2014. METHODS: We measured the distances between the bilateral nasal processes of the maxilla (interprocess distance [IPD]) on three-dimensional computed tomography images and then divided the patients into five different age groups. A growth curve of the pyriform aperture was then constructed based on the distance-age relationship. RESULTS: Fifty-four IPD measurements were included. The mean IPD was 3.57 mm in neonates < 1 month old, 4.08 mm in infants aged 1 to 3 months, 5.19 mm in the 4-month to 11-month age group, 6.61 mm in the 12-month to 36-month age group, and 9.20 mm in children > 36 months of age. We found that the cubic curve was the most appropriate growth curve, and that growth tended to be slower from 3.5 years to 6 years of age. CONCLUSIONS: The growth curve of the pyriform aperture in children with CNPAS developed in this study can aid in treatment planning and predict clinical outcome of CNPAS patients. Although CNPAS patients may become less symptomatic with age, when the observed IPD falls progressively farther from the curve, more aggressive intervention should be considered, such as changing the management strategy from observation to conservative treatment or from conservative treatment to surgery. LEVEL OF EVIDENCE: 4 Laryngoscope, 126:2399-2402, 2016.

Ultrasound screening: Status of markers and efficacy of screening for structural abnormalities.

Aneuploidy is a major cause of perinatal morbidity and mortality and can have a significant impact on expecting parents and their families. With early screening and diagnosis it is important to be able to educate parents regarding the potential impact of the diagnosis. This knowledge allows parents the opportunity to consider management options early in the pregnancy, permitting more time to mentally and emotionally prepare both for the course of the pregnancy, and after the birth of the child should the pregnancy continue. Prenatal screening provides pregnant women a non-invasive risk assessment for the most common aneuploidies. Those who are considered "high-risk" then have the option for additional diagnostic (invasive) testing. Prior to the 1980s, prenatal screening consisted of risk assessment through maternal age; however, with the advent of maternal serum biochemical analysis and ultrasound, the field of prenatal screening developed significantly. As biochemical and sonographic advances continued into the 1990s, the emphasis shifted to risk assessment in the first trimester, with the combination of maternal serum analytes and sonographic evaluation of the nuchal translucency.(1) Within the last decade, the introduction of non-invasive screening (NIPT/S) has shown great impact on the expansion and evolving practice of prenatal screening. Although in many places the standard for prenatal testing continues to include maternal serum analytes and sonographic evaluation, the role of each marker alone and in combination remains important. In the era of increasingly available screening tests, especially with NIPT/(NIPS), this article attempts to review the current role of ultrasound in prenatal care and elucidate the role of ultrasound markers in prenatal screening.

Low-dose maternal warfarin intake resulting in fetal warfarin syndrome: In search for a safe anticoagulant regimen during pregnancy.

BACKGROUND: Fetal exposure to maternal ingestion of warfarin is known to produce certain dysmorphic features in the neonate, known as fetal warfarin syndrome (FWS). There is a general consensus that maternal intake of warfarin at a daily dose of 5 mg or less is safe both for the infant and the mother. METHODS: We report four cases of FWS born to mothers with rheumatic heart disease on warfarin prophylaxis during pregnancy at a dose less than 5 mg/day. RESULTS: Along with typical facial features of FWS and multiple epiphyseal stippling in skeletal x-ray, Case 1 had Dandy-Walker malformation and Case 2 had laryngo-tracheomalacia and patent ductus arteriosus. CONCLUSION: We emphasize the need for optimizing the choice and dosage schedule of anticoagulants during pregnancy, least harmful for the mother and her developing fetus.

Inferior Turbinate Asymmetry Is a Feature of the Unilateral Complete Cleft Lip and Palate Nasal Deformity.

PURPOSE: Patients with unilateral complete cleft lip and palate (UCLP) have a characteristic bilateral septal deformity, and septal deviation can be associated with turbinate hyperplasia, leading to paradoxical nasal obstruction. The purpose of the present study was to measure and compare the bony and mucosal dimensions of the inferior turbinate on the cleft and non-cleft sides in patients with UCLP. PATIENTS AND METHODS: We implemented a retrospective cohort study of patients with UCLP who had undergone computed tomography (CT) scan between 2002 to 2013. Subjects who had undergone nasal revision, septoplasty, turbinectomy, or Le Fort I osteotomy before the imaging date were excluded. The primary predictor variable was the subject side (cleft vs noncleft side), and the primary outcome variable was the turbinate cross-sectional area. The secondary predictor variables included the site of measurement along the sagittal axis of the turbinate (anterior, middle, posterior) and tissue type (turbinate whole, bone, mucosa). The Wilcoxon signed rank test for paired samples compared the turbinate dimensions on the cleft and noncleft sides, with statistical significance set at P ≤ .05. RESULTS: The sample included 53 patients (32 females and 21 males). The inferior turbinates were measured bilaterally on CT images obtained at a mean age of 12.2 ± 0.8 years. The inferior turbinate on the noncleft side was significantly larger in both bone and mucosa (P = .003). This relationship did not change when controlling for age and gender. CONCLUSIONS: The results of the present study have confirmed bony and mucosal enlargement of the inferior turbinate on the noncleft side in patients with UCLP. This might contribute to bilateral nasal obstruction and should be considered during treatment planning for nasopharyngeal and orthognathic surgery.

Clinical factors indicating short nasal bone overlap.

CONCLUSION: It is important to take adequate precautions when performing septoplasty for elderly patients. OBJECTIVE: Septoplasty is the treatment of choice for deviation of the nasal septum. Saddle nose is a rare complication caused by damage to the keystone area. In this area, the nasal bone overlaps the upper lateral cartilages, so careful attention is needed when performing septoplasty to patients with short nasal bone overlap. Therefore, the factors associated with short nasal bone overlap were investigated to allow adequate precautions to be taken during surgery. METHOD: Computed tomography (CT) including the paranasal sinus region was performed in 177 patients. Data including sex, age, and the primary disease were obtained from their medical records. The degree of septal deviation and the bone overlap distance in the midline were measured using CT. RESULT: It was found that advancing age was significantly associated with shorter bone overlap distance in the midline. There was no significant association between the degree of septal deviation and nasal bone overlap distance in the midline. Furthermore, there was no significant difference in the overlap distance between nasal sinus diseases and other diseases, and between sexes.

Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome.

E26 transformation-specific 1 (ETS1) and friend leukemia integration 1 (FLI1) are members of the ETS family of transcription factors, of which there are 28 in humans. Both genes are hemizygous in Jacobsen syndrome, an 11q contiguous gene deletion disorder involving thrombocytopenia, facial dysmorphism, growth and mental retardation, malformation of the heart and other organs, and hearing impairment associated with recurrent ear infections. To determine whether any of these defects are because of hemizygosity for ETS1 and FLI1, we characterized the phenotype of mice heterozygous for mutant alleles of Ets1 and Fli1. Fli1(+/-) mice displayed mild thrombocytopenia, as did Ets1(+/-)Fli1(+/-) animals. Fli1(+/-) and Ets1(+/-)Fli1(+/-) mice also displayed craniofacial abnormalities, including a small middle ear cavity, short nasal bone, and malformed interface between the nasal bone process and cartilaginous nasal septum. They exhibited hearing impairment, otitis media, fusions of ossicles to the middle ear wall, and deformed stapes. Hearing impairment was more penetrant and stapes malformations were more severe in Ets1(+/-)Fli1(+/-) mice than in Fli1(+/-) mice, indicating partial functional redundancy of these transcription factors during auditory development. Our findings indicate that the short nose, otitis media, and hearing impairment in Jacobsen syndrome are likely because of hemizygosity for ETS1 and FLI1.