Nasal Anomalies Research Articles

CT and MRI of congenital nasal lesions in syndromic conditions.

Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article.

Bifid inferior turbinate: a report of two cases

Nasal turbinates are functionally important structures which extend from the lateral nasal walls to the nasal cavity. Lateral nasal wall anomalies are usually asymptomatic lesions which are incidentally detected. The most common variation of the lateral nasal wall is the pneumatization of turbinates. Anatomical variations of paranasal structures may present confusing intranasal landmarks. This may cause challenges in endoscopic sinus surgery. Bifid inferior turbinate is an extremely rare condition. In this article, we present two cases with bifid inferior turbinate. This variation should be kept in mind as a rare cause of nasal obstruction.

PO-0612 An Unexpected Digit Dilemma – A Case Of Mirror Image Duplication Of Both Hands And Feet

<h3>Background</h3> We present a case characteristic of Laurin-Sandrow syndrome in a term male infant. The infant is the third son of Caucasian parents born following uncomplicated pregnancy. There is no family history of limb abnormalities or genetic conditions. The infant was noted to have a wide nasal bridge, bilateral erythematous linear prominences on his columella with polydactyly and syndactyly of both hands and feet. There was wrist flexion and cupped hands, each with 7 normal length digits but no opposable thumbs. The feet were of ‘mirrored’ appearance with a further 17 digits. <h3>Methods</h3> MRI imaging of the brain revealed overall structural brain asymmetry, with agenesis of the corpus callosum and ventricular dilatation. Metacarpals and metatarsals were present for each digit, with an additional extra-axial digit noted on the left foot. Initial suggestion of autosomal dominant Grieg Cephalopolysyndactly (GCP) was revised by the Clinical Geneticist to Laurin-Sandrow Syndrome, with genetic PCR negative for GCP. <h3>Results</h3> Laurin-Sandrow Syndrome represents an extremely rare genetic condition of polysyndactyly associated with 14 q13 gene translocation, with fewer than 30 cases described in the literature. <h3>Conclusion</h3> In cases of extreme duplication of digits with nasal anomalies, cranial imaging and early review by a geneticist may be key in revealing the underlying diagnosis.

Obstrucción nasal congénita por estenosis de la apertura piriforme. Serie de casos

Nasal obstruction in neonates is a potentially fatal condition due to their exclusive nasal breathing. The main cause is inflammatory or infectious rhinitis. Congenital, neoplastic, traumatic or iatrogenic causes are less frequent.Choanal atresia is the most common congenital nasal anomaly. A less common etiology of congenital nasal obstruction is pyriform aperture stenosis. Suspicion might arise in any newborn with varying degrees of stridor and respiratory distress, associated with the difficulty of passing a probe through anterior nares. Diagnosis should be confirmed by a computed tomography of the craniofacial massif. The therapeutic approach will depend on the severity of symptoms.We describe our experience with 5 patients with this condition, treated surgically using a sub-labial approach, and followed by nasal stenting.

A 20-Year Experience in Microsurgical Treatment of Choanal Atresia

Introduction and objectivesChoanal atresia is the most common congenital nasal anomaly. Diagnosis is confirmed by endoscopic examination and computed tomography. The definitive treatment is surgical, and different surgical techniques and approaches are used. We describe our experience in transnasal microsurgical treatment of congenital choanal atresia. MethodsWe retrospectively evaluated 49 patients with congenital choanal atresia operated in the Department of Respiratory Endoscopy over a period of 20 years. The clinical variables analysed were type of atretic plate, age at diagnosis and surgery, associated malformations, maternal history of hyperthyroidism treated with methimazole during pregnancy, mode of airway stabilisation before surgery, surgical technique, complications, and outcome. ResultsMixed bilateral choanal atresia was the most frequent (29 cases). Its incidence was higher in females (61.2%). Almost 51% of patients showed associated malformations, and 7 had a history of maternal hyperthyroidism treated with methimazole during pregnancy. The surgical procedure consisted of a transnasal microscopic approach and placement of a silicone endonasal stent for one to 12 weeks. Thirty-five patients required revision after surgery. Nine patients had complications. Suitable nasal ventilation was achieved in 46 patients (93.9%). One patient died of causes unrelated to the surgery. Two patients with permeable choanae remain with tracheotomy. ConclusionThe transnasal microsurgical repair with endonasal stent proved to be a safe and effective procedure.

Experiencia de 20 años en el tratamiento microquirúrgico de la atresia de coanas

Introduction and objectivesChoanal atresia is the most common congenital nasal anomaly. Diagnosis is confirmed by endoscopic examination and computed tomography. The definitive treatment is surgical, and different surgical techniques and approaches are used. We describe our experience in transnasal microsurgical treatment of congenital choanal atresia. MethodsWe retrospectively evaluated 49 patients with congenital choanal atresia operated in the Department of Respiratory Endoscopy over a period of 20 years. The clinical variables analysed were type of atretic plate, age at diagnosis and surgery, associated malformations, maternal history of hyperthyroidism treated with methimazole during pregnancy, mode of airway stabilisation before surgery, surgical technique, complications, and outcome. ResultsMixed bilateral choanal atresia was the most frequent (29 cases). Its incidence was higher in females (61.2%). Almost 51% of patients showed associated malformations, and 7 had a history of maternal hyperthyroidism treated with methimazole during pregnancy. The surgical procedure consisted of a transnasal microscopic approach and placement of a silicone endonasal stent for one to 12 weeks. Thirty-five patients required revision after surgery. Nine patients had complications. Suitable nasal ventilation was achieved in 46 patients (93.9%). One patient died of causes unrelated to the surgery. Two patients with permeable choanae remain with tracheotomy. ConclusionThe transnasal microsurgical repair with endonasal stent proved to be a safe and effective procedure.

Reconstruction of Congenital Vomeral Bone Defect Using the Outer Table of the Skull

A congenital nasal septal defect involving vomeral bone is a rare nasal anomaly, and few reconstructed cases have been reported. Reconstruction of the nasal septum using the outer table of skull to allow the use of glasses was performed. The patient's postoperative course was uneventful, and the patient was discharged on the tenth postoperative day. A transferred bone remains and shows no deviation to the right or left in the ninth postoperative month. The tubercle of the nasal part remains, and the patient is satisfied with the cosmetic result 9 months postoperatively. The timing of the operation and the surgical procedure are discussed.

Spontaneous nosebleeds in the emergency department setting - characteristics, co-morbidities and treatment efficacy

Results The total number of SNs was 152. Of these 31 were re-visits hence 121 individuals, 54 (45%) female and 67 (55%) male. The age ranged from 2 up to and including 94 years, and age composition was similar in both genders. No patients were found in the age range of 23 up to and including 36. There were 16 (13%) patients below and 105 (87%) above this age range, categorized as younger patients (YP) and older patients (OP), respectively. YP had no comorbidities and 7 needed conservative treatment using a nasal clamp or putting an ice cube in the mouth. 70 (67%) of the OP had one or more of the following conditions / co-morbidities, using anticoagulant drug treatment (43 patients), hypertension (33 patients), nasal or haematological anomaly (9 patients). 35 (33%) of all OP needed no treatment, 23 (22%) were treated only conservatively and 47 (45%) with RapidRhino. RapidRhino was used for 10 (29%) of healthy OP and for 37 (53%) with co-morbidities.

Congenital Isolated Absence of the Nasal Membranous Septum

Congenital anomalies of the nasal septum, except septal deviation, constitute a small portion of all congenital nasal anomalies. Congenital isolated absence of the membranous septum has not been reported in the literature before. We present a man who has congenital defect of membranous septum and who underwent an augmentation rhinoplasty with costal cartilaginous graft for his flattened nose. Level IV therapeutic study.

Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome

Frontonasal Dysplasia (FND) and Oculo-auriculo-vertebral spectrum (OAVS) are two well-recognized clinical entities. With features of both FND and OAVS, the term oculoauriculofrontonasal syndrome (OAFNS) was coined in 1981. The OAFNS phenotype combines elements of abnormal morphogenesis of the frontonasal and maxillary process (derived from forebrain neural crest) with abnormal development of the first and second branchial arches (derived from hindbrain neural crest). We present a case series of 33 children with OAFNS ascertained from a comprehensive review of the literature and report an additional retrospective series of eight patients displaying features consistent with OAFNS. Notably, in a subset of our cases, we have observed abnormalities in nasal ossification and bony structures of the maxilla that have not previously described in OAFNS and are not seen in either FND or OAVS. We present the phenotype and novel naso-maxillary findings and explore potential etiologic and developmental pathways for OAFNS. We highlight the differences in phenotypic characteristics of OAFNS compared to OAVS and FND. These observations support the classification of OAFNS as a discrete syndrome. Further phenotypic refinements of OAFNS are needed to understand pathogenesis of this syndrome and the newly described nasal malformation may help identify the etiology.

Aesthetic correction of isolated congenital absence of nasal lower lateral cartilages

Isolated congenital nasal anomalies that cause remarkable aesthetic deformities are extremely rare, and only a few cases have been reported in the literature. In this study, we present the case of a patient with nonsyndromic congenital isolated absence of the nasal lower lateral cartilage and the subsequent esthetic surgical correction. A satisfactory result was achieved.

Congenital Agenesis of All the Nasal Cartilages

With the exception of septal deviation, congenital anomalies of the nasal cartilages constitute a small fraction of all congenital nasal anomalies. This report presents a patient with isolated agenesis of all the nasal cartilages, which has never been recorded previously. 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.

Obstrucción nasal congénita por atresia de coanas. Serie de casos

Nasal obstruction in neonates is a potential fatal condition because of their exclusive nasal breathing. The most common congenital causes include choanal atresia, dermoid cyst, glioma and encephalocele. Choanal atresia is the most common congenital nasal anomaly. When bilateral, it presents with respiratory distress at birth. Unilateral atresia is manifested by respiratory failure and unilateral rhinorrhea, and may go along unnoticed. Diagnosis is suspected in the absence of airfow in the nasal cavity and for the inability to advance a nasogastric tube. Diagnosis is confirmed by endoscopic examination and computed tomography. The definitive treatment is surgical, and there are different techniques and surgical approaches. We describe our experience with 7 patients with this disease, successfully treated by transnasal endoscopic technique.

Hypertelorism Correction

This report documents the authors' experience with 95 hypertelorism corrections performed since 1971. The authors note their findings regarding outcomes, preferred age at surgery, technique, and stability of results with growth. Patients were classified into three groups: midline clefts (with or without nasal anomalies, Tessier 0 to 14); paramedian clefts (symmetric or asymmetric with or without nasal anomalies); and hypertelorism with craniosynostosis. The authors developed a hypertelorism index to measure longitudinal orbital position. A total of 70 box osteotomies were performed. Twelve of 95 patients had a bipartition. Six of 95 patients underwent a unilateral orbital box displacement or a three-wall mobilization, and seven of 95 had a medial wall osteotomy. Eighty patients were graded 1 to 4 using the Whitaker scale. Fifty-nine of 80 patients received a grade of 1, 15 patients received a grade of 2, five patients received a grade of three, four patients initially scored a 4, and three patients underwent reoperation and were rescored as 1. The authors developed a hypertelorism index to rate 28 patients with long-term follow-up. None showed deterioration of results over the long term. The complication rate was 4 percent. The most interesting finding was that an initially good result in terms of orbital correction, whatever the severity, remains good with time, and facial balance improves after completion of growth. Therapeutic, IV.

Isolated Congenital Partial Absence of the Left Lower Lateral Nasal Cartilage

Isolated congenital nasal anomalies are rare; the isolated absence of any specific nasal structure is even rarer. In this report, we present a patient with congenital isolated partial absence of the left lower lateral cartilage including only the lateral crura.

Malformations of Ventral Induction

t o s t p o T f a Ventral induction occurs during 5-10 weeks of gestation. During this phase 3 primary vesicles (prosencephalon, esencephalon, and rhombencephalon) are differentiated to orm forebrain, midbrain, and hindbrain, respectively.1 Norally, early forebrain vesicles, prosencephalon, develop in he rostral end of the neural tube between 22 and 24 days of estation. The prosencephalon forms 2 laterally directed dierticula by 5-6 weeks and is divided into telencephalon future cerebrum) and diencephalon (future thalamus and ypothalamus). Diencephalon and telencephalon differentition occurs from the provesicle before the neural tube loses. Any insult during this phase affects the development f brain vesicles and the formation of the facial skeleton. cular and nasal anomalies are frequently associated with orebrain malformation because the optic placode and forerain develop at the same time, with subsequent formation of he olfactory vesicle 1 week later. The rhombencephalon diides into metencephalon (future pons and cerebellum) and yelencephalon (future medulla). Malformation of the hombencephalon is discussed in detail in this issue under Posterior Fossa Malformations.” The commonly seen forebrain ventral induction malforations are (1) holoprosencephaly, (2) atelencephaly, (3) lfactory aplasia, (4) agenesis of the corpus callosum, (5) genesis of the septum pellucidum (septo-optic dysplasia and avum vergae and pellucidum).

Craniofacial and intraoral phenotype of Robinow syndrome forms

Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The characteristic features of this syndrome overlap in both inheritance forms, which make the clinical differential diagnosis difficult, especially in isolated cases. The objective of this study was to identify differences in the craniofacial and intraoral phenotype of patients with DRS and RRS. The characteristics and frequency of 13 facial and 13 intraoral clinical features associated with both DRS and RRS were assessed by direct dysmorphology examination and using a digital photographic analysis in 12 affected subjects. Although the phenotypic presentation varied and overlapped in the two forms of the syndrome, there were differences in the severity of the craniofacial and intraoral features. The craniofacial dysmorphology of RS was more severe in RRS. Nasal anomalies were the most frequent craniofacial features in both DRS and RRS. In contrast, intraoral features such as wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding and hypodontia were more severe in patients with DRS. Overall, facial characteristics appeared less pronounced in adult subjects compared to younger subjects. Craniofacial and intraoral findings are highly variable in RS, with abnormalities of the intraoral structures being more prominent in the DRS form. We propose that the difference in the alveolar ridge deformation pattern and severity of other intraoral characteristics could enhance the differential diagnosis of the two forms of this syndrome.

Congenital unilateral intranasal membranous septa with choanal atresia dividing the nasal cavity into two blind pouch: A case report

Congenital nasal anomalies are rare disorders. An 11-year-old girl presented to our clinic with a left sided nasal obstruction and chronic nasal discharge since birth. Clinical evaluation revealed membranous septa which divided the left nasal cavity into two blind pouch and left sided choanal atresia with alar cartilage asymmetry. This congenital anomaly was not defined in the English literature. The membranous septa in the left nasal cavity were excised, alar reconstruction were performed and the choanal atresia were repaired by a transnasal endoscopic approach. In this article we reported a case of membranous septa which divided the left nasal cavity into two blind pouch associated with unilateral choanal atresia and alar cartilage asymmetry. Also the nasal anomalies and associated disorders in the literature were reviewed.

Prenatal sonographic diagnosis of holoprosencephaly

Objective To investigate the prenatal sonographic appearance of holoprosencephaly (HPE), and improve the diagnosis of this anomaly. Methods Thirty diagnosed or suspected HPE cases by prenatal ultrnsound were analyzed retrospectively from May 2001 to Nov. 2007. Intracranial structure, facial anomalies and other associated malformations were examined by prenatal ultrasound. Some received karyotyping or prenatal M-RI. Results HPE was confirmed in 25 cases (10 male and 15 female) through autopsy or follow-up and 5 were missed diagnosed or suspected as HPE by prenatal ultrasound, but hydroencephaly or porencephaly by autopsy. Alobar HPE was found in 21 cases in which ultrasound results were consistent with the final autopsy diagnosis. Semi-lobar HPE was detected in 4 cases. The diameters of the head were changed in 20 out of 24 cases(83.3%), especially 62.5% (15/24)with smaller BPD than the normal ones. The most common seen facial anomalies were midline anomalies (88.0%, 22/25) and all with ocular anomalies. Nasal anomalies were found in 11 cases, medial-cleft lip and/or palate in 11 eases and 10(40.0%) were assoeiated with complex congenital heart defects. Ten eases with HPE received karyotype and 5 were abnormal among which 4 with complex congenital heart defects. Conclusions Prenatal ultrasound is a useful tool in diagnosing HPE with highly accuracy. However, ultrasound itself fails in subtyping of HPE which can be compensated by MRL HPE is often associated with facial malformation and other multi-organ malformation, such as heart malformation. HPE is highly correlated with chromosomal abnormalities. Key words: Ultrasonography, prenatal; Holoprosencephaly

Heminasal Aplasia: Clinical Picture, Radiological Findings and Early “Temporary” Reconstruction with a Nasolabial Flap

Heminasal Aplasia: Clinical Picture, Radiological Findings and Early “Temporary” Reconstruction with a Nasolabial Flap