scholarly journals Dental Management of a Patient with Nager Acrofacial Dysostosis

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
R. Bozatlıoğlu ◽  
A. P. Münevveroğlu
Keyword(s):  
Nasal Bridge ◽  
Developmental Abnormalities ◽  
Airway Narrowing ◽  
Oropharyngeal Airway ◽  
Flat Nasal Bridge ◽  
Dental Rehabilitation ◽  
Limb Deformities ◽  
Life Threatening ◽  
Nager Syndrome ◽  
Ear Anomalies

Nager syndrome is a rare syndrome resulting from developmental abnormalities of the first and second branchial arches. Nager syndrome is rare and mostly sporadic. The main clinical features consist of craniofacial, limb, and musculoskeletal morphogenesis. These findings included malar hypoplasia, maxillomandibular hypoplasia, micrognathia, downslanting palpebral fissures, cleft palate, ear anomalies, hypoplastic thumb, short forearm, proximal radioulnar synostosis, atrial septal defect, lower limb deformities, and flat nasal bridge. The prevalence is unknown; about 100 cases of Nager syndrome have been published up to now. Patients with Nager syndrome are found worldwide among all racial and ethnic groups. Trismus and glossoptosis resulting in oropharyngeal airway narrowing cause life-threatening respiratory distress for patients with Nager syndrome. In this case report, dental rehabilitation of a 10-year-old child with Nager syndrome is presented.

scholarly journals PROSTHETIC TREATMENT OF A PATIENT WITH NAGERACROFACIALDYSOSTOSIS: A CASE REPORT

2020 ◽  
Vol 8 (9) ◽  
pp. 852-857
Author(s):  
Aicha Oubbaih ◽  
◽  
Yasmina Cheikh ◽  
Samira Bellemkhannate ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Case ◽  
Oral Care ◽  
Nasal Bridge ◽  
Flat Nasal Bridge ◽  
Branchial Arches ◽  
Nager Syndrome ◽  
The Many ◽  
And Function

Introduction: Nager syndrome, alsoknown as Nager acrofacialdysostosis, was first described by Nager and de Reynierin 1948. It is a rare syndrome resultingfromdevelopmentalabnormalities of the first and second branchial arches and ismostlysporadic. The prevalenceisunknown about 100 cases have been published up to now. The purpose of this report is to present a case of Nager syndrome wherewewere able to achieve a conventionalcomplete denture despite the many challenges due to the complexity of the clinical case. Case Report: A 27-years-old female patient wasreferred to our service of RemovableProsthodontics at Casablanca UniversityHospital Center complaining of difficulty in speaking and chewing. The patient presentedseveralcraniofacial anomalies including facial atrophy, maxillomandibularhypoplasia, flat nasal bridge, associated to defectsupper and lowerlimbs. Based on these craniofacial characteristics and the coexistingupper and lowerlimbpreaxial anomalies, a diagnosis of Nager syndrome wasconfirmed.The intra-oral examinationrevealed an edentulous mandibular arch and carious, mobile and hypomineralizedmaxillaryteeth, the patient presents a severemicrognatiawith a skeletal Cl III whichcomplicates the prosthetic management of the patient. Therealization of a complete denture has improved the comfort and function of the patient. Conclusion: Nager Syndrome is a condition with a ratherheavyclinical situation and its management must bemultidisciplinary, the psychology and comfort of these patients isoftenaffected. Oral care has improvedaesthetics, function and the quality of life in this patient with Nager syndrome.

scholarly journals Role of Ultrasound in Body Stalk Anomaly and Amniotic Band Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Madhavilatha Routhu ◽  
Sreedevi Thakkallapelli ◽  
Prashanthi Mohan ◽  
Nadeem Ahmed
Keyword(s):  
First Trimester ◽  
Unknown Etiology ◽  
Abdominal Wall Defects ◽  
Body Parts ◽  
Patient Counselling ◽  
Amniotic Band ◽  
Developmental Abnormalities ◽  
Amniotic Band Syndrome ◽  
Limb Deformities ◽  
Craniofacial Defects

Body stalk anomaly (BSA) and amniotic band syndrome (ABS) are rare similar fetal sporadic polymalformative syndromes of unknown etiology, though there are certain differences between them. BSA is a combination of developmental abnormalities involving neural tube, body wall, and the limbs with persistent extra embryonic coelomic cavity. ABS is characterized by the presence of thin membrane-like strands attached to fetal body parts and causing constrictions and amputations. This is a cohort study involving 32,100 patients who were referred for routine antenatal ultrasound scan. The data was entered prospectively into a computer database. The duration of study was 3 years. In our study, ultrasound examination in 86 patients demonstrated ventral wall defects, craniofacial defects, and spinal and limb deformities as isolated or combined abnormalities. In those, 10 patients were suspected/diagnosed as BSA/ABS including a twin of a dichorionic diamniotic gestation. The typical features of body stalk anomaly can be detected by ultrasound by the end of the first trimester, which is important for the patient counselling and management. We are presenting these rare conditions and highlighting the importance of early sonographic imaging in diagnosing and differentiating them from other anterior abdominal wall defects.

scholarly journals Rhizomelic limb shortness and abnormal facies: short stature syndrome sharing some manifestations with robinow syndrome

2021 ◽  
pp. 398-401
Author(s):  
Mohit Bajaj ◽  
Ayush Sopori ◽  
Jeevak V Divakaran ◽  
Naveen Rao ◽  
Seema Sharma
Keyword(s):  
Short Stature ◽  
Skeletal Growth ◽  
Lower Limbs ◽  
Nasal Bridge ◽  
Left Hand ◽  
Flat Nasal Bridge ◽  
Radiological Changes ◽  
Robinow Syndrome ◽  
Characteristic Features

In children, short stature and disproportionate skeletal growth are associated with many syndromes and these syndromes have characteristic radiological changes which help in their diagnosis. However, many of them have no well-defined diagnostic criteria, and thus overlap between apparently distinct syndromes is common. Here, we report a child with characteristic features seen distinct from any other dwarfing syndrome known to us with some of the features similar to Robinow syndrome. Newborn had a broad and prominent forehead, mid-face hypoplasia, hypertelorism, flat nasal bridge, upturned nose, elongated philtrum, protruding tongue, single crease in the left hand, widely spaced nipple, brachydactyly in lower limbs, and disproportionately short rhizomelic upper and lower limbs. Based on these features, a diagnosis of Robinow syndrome was made. The case was the first of his kind admitted to our institute. The diagnosis was made clinically after follow-up.

scholarly journals Down’s syndrome

2019 ◽  
Vol 13 (1) ◽  
pp. 47-52
Author(s):  
Sarah MacLennan
Keyword(s):  
Clinical Features ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Legal Issues ◽  
Chromosome 21 ◽  
Intellectual Impairment ◽  
Nasal Bridge ◽  
Chromosomal Disorders ◽  
Flat Nasal Bridge ◽  
Increased Risk

Down’s syndrome is caused by trisomy of chromosome 21; it is one of the best known chromosomal disorders in humans. It has effects on most body systems, giving rise to a variety of characteristic clinical features including intellectual impairment, short stature, flat face, flat nasal bridge, prominent epicanthic folds, up slanting palpebral fissures and protruding tongue. Down’s syndrome is also associated with an increased risk of other medical conditions. All patients with Down’s syndrome have a degree of intellectual impairment ranging from mild to severe. This article considers the epidemiology, genetics, associated risks, antenatal screening and potential ethico-legal issues relating to the disorder before discussing clinical features, complications and monitoring requirements. Finally, Down’s syndrome management, prognosis, and future diagnostic tests are outlined.

Occipital and external acoustic meatus to axis angle: a useful predictor of oropharyngeal space in rheumatoid arthritis patients with atlantoaxial subluxation

2019 ◽  
Vol 31 (4) ◽  
pp. 534-541 ◽  
Author(s):  
Kazuaki Morizane ◽  
Mitsuru Takemoto ◽  
Masashi Neo ◽  
Shunsuke Fujibayashi ◽  
Bungo Otsuki ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Translational Motion ◽  
Atlantoaxial Subluxation ◽  
Neutral Position ◽  
Occipitocervical Fusion ◽  
Middle Point ◽  
Oropharyngeal Airway ◽  
Flexion Extension ◽  
Life Threatening ◽  
Anterior Posterior

OBJECTIVEDyspnea and/or dysphagia is a life-threatening complication after occipitocervical fusion. The occiput-C2 angle (O-C2a) is useful for preventing dyspnea and/or dysphagia because O-C2a affects the oropharyngeal space. However, O-C2a is unreliable in atlantoaxial subluxation (AAS) because it does not reflect the translational motion of the cranium to C2, another factor affecting oropharyngeal area in patients with rheumatoid arthritis (RA) who have reducible AAS. The authors previously proposed the occipital and external acoustic meatus to axis angle (O-EAa; i.e., the angle made by McGregor’s line and a line joining the external auditory canal and the middle point of the endplate of the axis [EA line]) as a novel, useful, and powerful predictor of the anterior-posterior narrowest oropharyngeal airway space (nPAS) distance in healthy subjects. The aim of the present study was to elucidate the validity of O-EAa as an indicator of oropharyngeal airway space in RA patients with AAS.METHODSThe authors investigated 64 patients with RA. The authors collected lateral cervical radiographs at neutral position, flexion, extension, protrusion, and retraction and measured the O-C2a, C2-C6, O-EAa, anterior atlantodental interval (AADI), and nPAS. Patients were classified into 2 groups according to the presence of AAS and its mobility: group N, patients without AAS; and group R, patients with reducible AAS during dynamic cervical movement.RESULTSGroup N had a significantly lower AADI and O-EAa than group R in all but the extension position. The O-EAa was a better predictor for nPAS than O-C2a according to the mixed-effects models in both groups (marginal R2: 0.510 and 0.575 for the O-C2a and O-EAa models in group N, and 0.250 and 0.390 for the same models, respectively, in group R).CONCLUSIONSO-EAa was superior to O-C2a in predicting nPAS, especially in the case of AAS, because it affects both O-C2a and cranial translational motion. O-EAa would be a useful parameter for surgeons performing occipitocervical fusion in patients with AAS.

scholarly journals Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Bani Bandana Ganguly ◽  
Vijay Kadam ◽  
Nitin N. Kadam
Keyword(s):  
Chromosomal Rearrangements ◽  
Phenotypic Expression ◽  
Partial Trisomy ◽  
Derivative Chromosome ◽  
Chromosome 6 ◽  
Clinical Expression ◽  
Balanced Translocation ◽  
Nasal Bridge ◽  
Flat Nasal Bridge ◽  
Chromosomal Alteration

Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a family comprising of healthy and non-consanguineous young parents and their preemie newborn severely affected with congenital anomalies and systemic disorders. Conventional Gbanding analysis of somatic chromosomes identified a balanced translocation, t(6;10)(p23;q24), in mother and an unbalanced rearrangement, der(6)t(6:10)(p23;q24)mat, in the child. The child has inherited a derivative chromosome 6 with partial deletion of 6(p23-pter) and partial trisomy 10(q24-qter), which has resulted in fusion of genes of two different chromosomes. The prominent phenotypic features of del(6p), including high forehead, flat nasal bridge, agenesis of left ear, atrial septal defect (ASD), craniosynostosis, and growth retardation, are overlapping with specific Axenfeld-Reiger-, Larsen-, and Ritscher-Sinzel/3-C syndromes, however, lacking in ocular anomalies, skeletal laxity, or cerebellar malformation. Therefore, this paper rules out the isolated effect of del(6p23) or trisomy 10(q24) on distinct previously reported syndromes and proposes the combined effect of unbalanced chromosomal alteration.

scholarly journals Approach to pediatric rotational limb deformities

2019 ◽  
Author(s):  
Huthayfa Kahf ◽  
Yazeed Kesbeh ◽  
Eric Van Baarsel ◽  
Vandan Patel ◽  
Nicholas Alonzo
Keyword(s):  
Pediatric Population ◽  
Primary Care Providers ◽  
Femoral Anteversion ◽  
Common Source ◽  
Care Providers ◽  
Developmental Abnormalities ◽  
Childhood Growth ◽  
Common Causes ◽  
Limb Deformities ◽  
Pediatric Orthopedic

Pediatric lower extremity complaints are a common source of concern for parents. Gait concerns such as in-toeing are considered a developmental variant of childhood growth and are a common reason for visits to a pediatrician. In-toeing specifically is a common anatomic structural variation encountered by pediatric primary care providers and pediatric orthopedic specialists and may be accentuated between six months and five years during which children are developing their coordination skills. This study focuses on the three most common causes of in-toeing in the pediatric population; femoral anteversion (FA), tibial torsion (TT), and metatarsus adductus (MA) with the purpose of providing a brief review to give providers confidence in addressing these common developmental abnormalities.

scholarly journals HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness

2014 ◽  
Vol 41 (4) ◽  
pp. 448-451 ◽  
Author(s):  
Khaled K. Abu-Amero ◽  
Abdulrahman al Hagr ◽  
Murad O. Almomani ◽  
Taif Anwar Azad ◽  
Ibrahim A. Alorainy ◽  
...  
Keyword(s):  
Middle Eastern ◽  
Cranial Nerves ◽  
Sensorineural Deafness ◽  
Semicircular Canals ◽  
Developmental Abnormalities ◽  
Vestibular Aqueduct ◽  
Profound Deafness ◽  
Middle Eastern Population ◽  
Ear Anomalies ◽  
Medical Examinations

Objective:Homozygous homeobox A1 (HOXA1) mutations cause a spectrum of abnormalities in humans including bilateral profound deafness. This study evaluates the possible role of HOXA1 mutations in familial, non-syndromic sensorineural deafness.Methods:Forty-eight unrelated Middle Eastern families with either consanguinity or familial deafness were identified in a large deafness clinic, and the proband from each family was evaluated by chart review, audiogram, neuroimaging, and HOXA1 sequencing.Results:All 48 probands had normal neuro-ophthalmologic and general medical examinations except for refractive errors. All had congenital non-syndromic sensorineural hearing loss that was symmetric bilaterally and profound (>90 dBHL) in 33 individuals and varied from 40 to 90 dBHL in the remainder. Thirty-nine of these individuals had neuroimaging studies, all documenting normal internal carotid arteries and normal 6th, 7th, and 8th cranial nerves bilaterally. Of these, 27 had normal internal ear structures with the remaining 12 having mild to modest developmental abnormalities of the cochlea, semicircular canals, and/or vestibular aqueduct. No patient had homozygous HOXA1 mutations.Conclusions:None of these patients with non-syndromic deafness had HOXA1 mutations. None had major inner ear anomalies, obvious cerebrovascular defects, or recognized congenital heart disease. HOXA1 is likely not a common cause of non-syndromic deafness in this Middle Eastern population.

Palatoplasty for the Patient With Campomelic Dysplasia—Report of a Case and Review of the Literature

2021 ◽  
pp. 105566562199265
Author(s):  
Kaya Narimatsu ◽  
Akihiko Iida ◽  
Takanori Kobayashi
Keyword(s):  
Respiratory Distress ◽  
Gene Mutations ◽  
Optimal Timing ◽  
Review Of The Literature ◽  
Campomelic Dysplasia ◽  
Nasal Bridge ◽  
Flat Nasal Bridge ◽  
Surgical Methods ◽  
Skeletal Disorder ◽  
Respiratory Conditions

Campomelic dysplasia (CMPD) is a skeletal disorder resulting from SOX9 gene mutations. Palatoplasty is rare due to a high lethality rate in infants from respiratory distress. Our patient had characteristic symptoms of CMPD, including short bowed limbs, macrocephaly, low-set ears, short palpebral fissures, hypertelorism, a flat nasal bridge, a long philtrum, micrognathia, and a cleft palate. We performed a Furlow palatoplasty when the patient was 2 years 9 months of age, after respiratory conditions had stabilized. We reviewed the literature of CMPD cases that underwent palatoplasty and discussed the optimal timing and surgical methods.

Anthropometric and Anthroposcopic Findings of the Nasal and Facial Region in Cleft Patients before and after Primary Lip and Palate Repair

1993 ◽  
Vol 30 (1) ◽  
pp. 1-12 ◽  
Author(s):  
Leslie G. Farkas ◽  
Karel Hajniš ◽  
Jeffrey C. Posnick
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Nasal Bridge ◽  
Facial Region ◽  
Nasal Tip ◽  
Flat Nasal Bridge ◽  
Before And After ◽  
Upper Face ◽  
Palate Repair

Two populations were studied and compared to determine the effects of cleft lip and palate surgery on the nose and face. In the first, three anthropometric measurements, two nasal and one facial, were taken before primary lip repair from infants with complete unilateral cleft lip and palate (UCLP) and with bilateral cleft lip and palate (BCLP). In the second, ten measurements were taken from the nose and face of patients surgically treated for UCLP and BCLP. The high frequency of noses disproportionately wide in relation to their height in both cleft types before primary lip repair greatly decreased after surgery. Among the residual deformities after surgery for UCLP, nostril floor width asymmetry was the most frequent, followed by columella length asymmetry, flat nasal bridge, wide soft nose, flat nasal tip, and small nasal tip protrusion. In the BCLP patients, nostril floor width asymmetry was also the most common stigma, followed by flat nasal tip, wide soft nose, columella length asymmetry, flat nasal bridge and bilaterally angled alae, and small nasal tip protrusion. A subnormally flat upper face inclination was observed in UCLP and BCLP patients. Quantitative determination of these nasal stigmata in cleft lip and palate patients who have undergone primary lip repair provides valuable information for surgical correction of the cleft soft-tissue deformities.

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