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1.
Niger J Clin Pract ; 19(3): 359-63, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27022800

RESUMEN

OBJECTIVE: Mucociliary transport (MCT) is an important defense mechanism of the respiratory tract. One of the major factors determining MCT is the ciliary activity of the respiratory epithelium. Rhinoscintigraphy is the most commonly used method for the analysis of mucociliary activity. The aim of this study was to investigate the effect of facial paralysis on the nasal mucociliary clearance. MATERIALS AND METHODS: This study included 38 Bell's palsy patients as the study group and 10 subjects without any history of paranasal sinus disease or facial paralysis as the control group. A drop of technetium 99m-labeled macroaggregated albumin (Tc-99m MAA) was placed posterior to the head of the inferior turbinate and followed with a gamma camera. MCT rate was measured as the velocity of Tc-99m MAA drop. RESULTS: The mean MCT rate was 4.27 ± 0.76 millimeters per minute (mm/min) on 20 sides of 10 healthy controls, 4.11 ± 2.91 mm/min on the affected sides of the patients with Bell's palsy, and 6.03 ± 3.13 mm/min on the nonparalyzed sides of the patients. MCT rate was statistically significantly faster in the nonparalyzed side when compared to the paralyzed side in Bell's palsy patients (P = 0.001). MCT rates were not significantly different in the control group and paralyzed sides of the Bell's palsy patients (P = 0.810). The MCT rate was statistically significantly faster in the nonparalyzed sides of Bell's palsy patients when compared to the controls (P = 0.017). CONCLUSION: This study showed a faster MCT rate on the nonparalyzed side in Bell's palsy patients when compared to the paralyzed side and the control subjects. A compensatory mechanism could be the underlying reason for faster MCT on the nonparalyzed side. Further studies on larger patient groups are needed to investigate the effect of facial paralysis on the MCT and changes of facial nerve function on the opposite, nonparalyzed side of the face.


Asunto(s)
Parálisis de Bell/diagnóstico , Parálisis Facial/fisiopatología , Depuración Mucociliar , Mucosa Nasal/diagnóstico por imagen , Cintigrafía , Adulto , Anciano , Parálisis de Bell/fisiopatología , Estudios de Casos y Controles , Cara , Femenino , Humanos , Masculino , Persona de Mediana Edad , Nariz
2.
B-ENT ; 11(2): 129-34, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26563013

RESUMEN

PURPOSE: This study investigated changes in patient nasal and conjunctival flora one year after endoscopic dacryocystorhinostomy (EDSR). METHODS: The prospective study included 20 patients that underwent EDSR due to chronic dacryocystitis. Conjunctival and nasal cultures were obtained one year after EDSR from both study and control groups. Patient characteristics, chronic illnesses, the severity and duration of complaints, culture results, and the stent removal time were recorded and analyzed. RESULTS: In the study group, the most commonly isolated microorganism in the nasal cultures was coagulase-negative staphylococcus (n = 11), and the second most commonly isolated microorganism was Staphylococcus aureus (n = 7). A total of 11 (55%) of the nasal cultures in the study group showed the presence of multi-drug resistant (MDR) bacteria, as did 2 (10%) of the nasal cultures in the control group (p = 0.007). CONCLUSIONS: One year after EDSR surgery with silicon stent placement, we detected changes in the nasal flora in the operated side compared with the non-operated side. Even though more than half of the nasal cultures in the study group were positive for MDR bacteria, these microorganisms did not cause attacks of dacryocystitis or affect surgical success.


Asunto(s)
Citrobacter freundii/aislamiento & purificación , Dacriocistitis/cirugía , Dacriocistorrinostomía , Staphylococcus aureus Resistente a Meticilina/aislamiento & purificación , Microbiota , Mucosa Nasal/microbiología , Pseudomonas aeruginosa/aislamiento & purificación , Stents , Anciano , Estudios de Casos y Controles , Enfermedad Crónica , Citrobacter freundii/fisiología , Farmacorresistencia Bacteriana Múltiple/fisiología , Femenino , Humanos , Masculino , Staphylococcus aureus Resistente a Meticilina/fisiología , Persona de Mediana Edad , Pseudomonas aeruginosa/fisiología , Siliconas , Staphylococcus aureus/aislamiento & purificación , Staphylococcus aureus/fisiología
3.
B-ENT ; 11(2): 135-9, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26563014

RESUMEN

OBJECTIVE: To determine whether osteitis is associated with primary and revision surgery in patients with chronic rhinosinusitis (CRS) and to determine its relationship with mucosal inflammation. METHODOLOGY: Patients were divided into two groups based on a history of prior endoscopic sinus surgery (ESS). The primary surgery group included 74 patients who had ESS for the first time, and the revision surgery included 37 patients who had repeat ESS. Histopathological examinations were performed on specimens taken from the bony septa of the ethmoid with the overlying mucosa. RESULTS: The incidence of osteitis was 70.3% in patients in the revision surgery group and 56.8% in patients in the primary surgery group (p = 0.229). Osteitis was associated with tissue eosinophilia and a predominance of inflammatory cells (p = 0.01 and p = 0.01, respectively). CONCLUSIONS: Surgery may not be the primary cause of bone remodeling in the sinus area. Mucosal inflammation had no effect on the incidence of osteitis when it was associated with tissue eosinophilia in CRS. Patients with osteitis may benefit most from postoperative corticosteroid therapy to prevent further recurrence.


Asunto(s)
Osteítis/patología , Senos Paranasales/cirugía , Rinitis/patología , Sinusitis/patología , Adulto , Remodelación Ósea , Enfermedad Crónica , Estudios de Cohortes , Endoscopía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pólipos Nasales/complicaciones , Pólipos Nasales/patología , Pólipos Nasales/cirugía , Osteítis/complicaciones , Osteítis/cirugía , Procedimientos Quirúrgicos Otorrinolaringológicos , Reoperación , Estudios Retrospectivos , Rinitis/complicaciones , Rinitis/cirugía , Sinusitis/complicaciones , Sinusitis/cirugía
4.
Auris Nasus Larynx ; 42(4): 284-7, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25725564

RESUMEN

OBJECTIVE: Intratympanic steroids (ITSs) are recommended for treatment of sudden sensorineural hearing loss (SSNHL). On the other hand, the dosage, frequency and duration of the intratympanic therapy are still not clear. We aimed to evaluate the efficacy of low-dose intratympanic steroid (ITS) treatment of SSNHL. METHODS: Seventy patients (ears) treated for SSNHL were involved in the study. The patients were divided into four groups: the systemic steroid, combined, intratympanic initial (ITSi) and intratympanic salvage (ITSs). The demographic data, accompanying symptoms, treatment onset duration, the treatment protocol, and pre- and post-treatment pure tone audiometry results were recorded. RESULTS: The mean treatment onset was 60 days in the ITSs group, which is statistically later than the other groups (p<0.001). The treatment response was assessed based on Siegel's criteria. Hearing recovery was statistically higher in the combined group than the systemic steroid group (p=0.042). 87.5% of the ITSi group showed full recovery, which is a statistically significantly higher difference than the other groups (p<0.001). In the salvage treatment group, the use of low-dose ITS was observed to be inadequate for the treatment (p<0.001). The post-treatment pure tone average gains in dB were analyzed at 500, 1000, 2000, and 4000Hz and the recovery determined for each of the four groups was found to be statistically significant (p<0.001 to p<0.031). CONCLUSION: The ITS administration as the initial treatment for mild to moderate hearing loss is adequate while low dose of dexamethasone used as a salvage treatment is inadequate. The use of low-dose ITS in the combined treatment may increase the hearing gain.


Asunto(s)
Dexametasona/uso terapéutico , Glucocorticoides/uso terapéutico , Pérdida Auditiva Súbita/tratamiento farmacológico , Administración Oral , Adulto , Audiometría de Tonos Puros , Terapia Combinada , Femenino , Humanos , Inyección Intratimpánica , Masculino , Persona de Mediana Edad , Prednisolona/uso terapéutico , Estudios Retrospectivos , Terapia Recuperativa , Resultado del Tratamiento
5.
Eur Arch Otorhinolaryngol ; 269(12): 2575-80, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22707319

RESUMEN

Obstructive sleep apnea syndrome (OSAS) and Laryngopharyngeal reflux disease (LPR) are both common health problems causing severe morbidity. Since they have similar risk factors, the prevalence of LPR among patients with OSAS is higher compared with general population. However, there exist only a few studies showing the potential causal relation between LPR and OSAS. The aim of this study was to evaluate the coexistence between OSAS and LPR and to determine whether the therapy of OSAS alters LPR parameters and vice versa. In this study, 44 patients underwent double probed 24 h pH monitoring simultaneously with polysomnography due to the complaints of obstructive sleep apnea and reflux. Twenty of those 44 patients were diagnosed with both OSAS and LPR. Among those patients, 10 patients with mild to moderate OSAS were given only LPR treatment for 3 months. The remaining 10 patients who had severe OSAS underwent CPAP treatment for 3 months. After the end of treatment, all patients were reevaluated with double probed 24 h pH monitoring simultaneously with PSG. Moreover, the patients were evaluated subjectively by Epworth Sleepiness Scale (ESS), snoring Visual Analogue Scale (VAS), Reflux Symptom Index (RSI), and Reflux Finding Score (RFS). The results of this study revealed that OSAS and LPR coexist frequently. LPR treatment did not improve the polysomnographic parameters, but significantly reduced ESS and snoring VAS (p = 0.02 and p = 0.007, respectively). Although the CPAP treatment significantly improved subjective parameters of reflux, such as RSI and RFS (p = 0.016 for both), there was no significant improvement in objective parameters of 24-h pH monitoring. We concluded that since there is a high frequency of coexistence between LPR and OSAS, all patients with OSAS should also be queried for LPR symptoms. In addition, more in-depth and comprehensive research is required to elucidate the association between OSAS and LPR.


Asunto(s)
Antiulcerosos/uso terapéutico , Presión de las Vías Aéreas Positiva Contínua , Reflujo Laringofaríngeo/terapia , Inhibidores de la Bomba de Protones/uso terapéutico , Apnea Obstructiva del Sueño/terapia , Adulto , Monitorización del pH Esofágico , Femenino , Humanos , Reflujo Laringofaríngeo/complicaciones , Masculino , Persona de Mediana Edad , Polisomnografía , Índice de Severidad de la Enfermedad , Apnea Obstructiva del Sueño/complicaciones
6.
J Laryngol Otol ; 125(11): 1121-4, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21888743

RESUMEN

AIM: The aetiology of tympanosclerosis is not yet clear. This prospective, controlled, clinical study investigated the relationship between Helicobacter pylori and tympanosclerosis aetiology. MATERIALS AND METHODS: The study included 14 patients with tympanosclerosis and 26 with other forms of chronic otitis media. All patients underwent surgery for chronic otitis media. Mucosal biopsies were taken, and examined for H pylori using the Campylobacter-Like Organism (CLO) test. RESULTS: Tympanoplasty was performed in 29 patients (72.5 per cent), radical mastoidectomy in eight (20 per cent) and myringoplasty in three (7.5 per cent). The presence of H pylori was tested in all tympanosclerosis biopsies, but in only 26.9 per cent of biopsies from other forms of chronic otitis media. A statistically significant difference in H pylori presence was found (p ≤ 0.01). CONCLUSION: This study represents a preliminary investigation of the association between H pylori and tympanosclerosis development.


Asunto(s)
Oído Medio/microbiología , Infecciones por Helicobacter/complicaciones , Helicobacter pylori/patogenicidad , Otitis Media/microbiología , Membrana Timpánica/patología , Adulto , Biopsia , Enfermedad Crónica , Oído Medio/patología , Femenino , Reflujo Gastroesofágico/epidemiología , Infecciones por Helicobacter/microbiología , Helicobacter pylori/aislamiento & purificación , Humanos , Masculino , Apófisis Mastoides/cirugía , Membrana Mucosa , Miringoplastia , Otitis Media/patología , Otitis Media/cirugía , Estudios Prospectivos , Esclerosis , Membrana Timpánica/microbiología , Membrana Timpánica/cirugía , Timpanoplastia
7.
B-ENT ; 5(1): 43-5, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19455999

RESUMEN

A mass at fat density in the parotid gland: dermoid cyst or lipoma. Dermoid cysts (DC) of the head and neck are uncommon and account for only 7% of all dermoid cysts in the body. DCs of the parotid gland are even rarer. In this article, a 42-year-old female patient with DC of the parotid gland is presented and discussed with a brief review of the literature. Radiologic findings suggested that the mass was a lipoma, but observation of a hair in the cyst during surgery changed the clinical diagnosis to DC; this suspicion was confirmed by pathological analysis. Although DCs are rare among the parotid masses, they should be kept in mind during the differential diagnosis.


Asunto(s)
Quiste Dermoide/patología , Lipoma/patología , Neoplasias de la Parótida/patología , Adulto , Quiste Dermoide/cirugía , Diagnóstico Diferencial , Femenino , Humanos , Neoplasias de la Parótida/cirugía
9.
J Laryngol Otol ; 122(8): 795-8, 2008 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-18036275

RESUMEN

BACKGROUND: The aim of this study was to investigate the differences between pre- and post-operative hearing thresholds, measured by high frequency audiometry, in patients undergoing open heart surgery. MATERIALS AND METHODS: Pre- and post-operative audiometric assessments were performed in 20 patients undergoing open heart surgery. Pure tone audiometry testing was performed at 500, 1000, 2000, 3000, 4000, 6000, 8000, 10 000, 12 000 and 14 000 Hz. We also evaluated: patients' clinical parameters (i.e. age, sex, diabetes mellitus, hypertension, hypercholesterolaemia, history of myocardial infarction, and whether undergoing coronary artery bypass surgery or valve surgery); various operative details (operative temperatures, cardiopulmonary bypass time and cross-clamp time); and post-operative clinical progress and its effect on hearing loss. RESULTS: Patients' pre- and post-operative pure tone audiometric results were significantly different at some frequencies (p < 0.05). In addition, there was a significant impact of hypertension, hypercholesterolaemia, history of myocardial infarction and cross-clamp time. CONCLUSIONS: This study shows that open heart surgery using cardiopulmonary bypass can lead to significant post-operative changes in hearing levels at some frequencies. Some additional patient parameters may influence this process. It seems possible that the risk of such hearing loss could be reduced; further studies may be able to define the significance of patients' concomitant disorders.


Asunto(s)
Puente Cardiopulmonar/efectos adversos , Puente de Arteria Coronaria , Pérdida Auditiva Sensorineural/etiología , Implantación de Prótesis de Válvulas Cardíacas , Adulto , Audiometría de Tonos Puros , Umbral Auditivo , Femenino , Pérdida Auditiva Sensorineural/diagnóstico , Humanos , Hipercolesterolemia/complicaciones , Hipertensión/complicaciones , Masculino , Persona de Mediana Edad , Infarto del Miocardio/complicaciones , Periodo Posoperatorio , Estudios Prospectivos , Factores de Riesgo , Estadísticas no Paramétricas
10.
J Laryngol Otol ; 122(9): 983-5, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-17640436

RESUMEN

OBJECTIVE: To draw attention to the possibility of an aberrant internal carotid artery behind an intact tympanic membrane presenting as a middle-ear mass. CASE: A 48-year-old female patient presented with a hearing impairment in her right ear that had started 10 years ago. Otoscopic examination revealed a retro-tympanic mass. A high resolution computed tomography scan of the temporal bone was performed that showed protrusion of the internal carotid artery into the middle ear. Magnetic resonance angiography provided excellent visualisation of the internal carotid artery. Finally, a diagnosis of an aberrant internal carotid artery was made and the patient was evaluated with a conservative approach. CONCLUSION: All retro-tympanic masses should ideally be visualised with a computed tomography scan of the temporal bone before any middle-ear surgery, such as tympanotomy and biopsy, and it is essential for every otologist who undertakes myringotomy and middle-ear surgery to know about this rare entity.


Asunto(s)
Arteria Carótida Interna/anomalías , Oído Medio/diagnóstico por imagen , Hueso Temporal/diagnóstico por imagen , Arteria Carótida Interna/diagnóstico por imagen , Femenino , Humanos , Angiografía por Resonancia Magnética , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Membrana Timpánica
11.
J Laryngol Otol ; 122(6): 551-6, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-17888195

RESUMEN

OBJECTIVE: This study aimed to elucidate the potential inner-ear effects of fotemustine, a chemotherapeutic agent which crosses the blood-brain barrier and is used in the treatment of primary and metastatic brain tumours and metastatic melanoma. METHODS: This study utilised distortion product otoacoustic emissions and transmission electron microscopy in order to conduct electrophysiological and morphological assessments, using a rat experimental model. Twelve ears of six male rats were examined two months following intraperitoneal slow infusion of fotemustine (100 mg/m2 or 7.4 mg/kg). Pre- and post-treatment measurements were compared. Finally, electron microscopy was performed on three rat temporal bones. RESULTS: After infusion of fotemustine, distortion product otoacoustic emissions revealed a significant reduction in signal-to-noise ratios only at 3600 Hz (from 11.95 +/- 7.52 to -0.26 +/- 9.45 dB) and at 3961 Hz (from 18.09 +/- 7.49 to 6.74 +/- 12.11 dB) (referenced to 2f1 - f2). Transmission electron microscopy of the temporal bone revealed ultrastructural changes in the outer hair cells, stria vascularis and cochlear ganglion at the cochlear basal turn. The ganglion cell perikarya were unaffected. CONCLUSIONS: Fotemustine was administered via intraperitoneal slow infusion in a rat experimental model. Twelve ears of six survivors, from 10 rats, were evaluated at the second month. Fotemustine was determined to have a potential for ototoxicity at 3600 and 3961 Hz. Three randomly chosen rats underwent electron microscopy for morphological analysis. Morphological effects in the cochlear basal turn were observed. Oedematous intracytoplasmic spaces and perivascular areas of the stria vascularis, as well as distorted chromatin content, were detected, thereby suggesting potential ototoxic effects for this agent. Further experimental and clinical studies are required in order to determine whether the effect seen in this pilot study is reversible, and to analyse effects in humans.


Asunto(s)
Antineoplásicos/efectos adversos , Cóclea/efectos de los fármacos , Compuestos de Nitrosourea/efectos adversos , Compuestos Organofosforados/efectos adversos , Emisiones Otoacústicas Espontáneas/efectos de los fármacos , Hueso Temporal/efectos de los fármacos , Animales , Membrana Basilar/efectos de los fármacos , Membrana Basilar/ultraestructura , Cóclea/ultraestructura , Células Ciliadas Auditivas Externas/efectos de los fármacos , Células Ciliadas Auditivas Externas/ultraestructura , Masculino , Microscopía Electrónica/métodos , Modelos Animales , Proyectos Piloto , Ratas , Ratas Sprague-Dawley , Ganglio Espiral de la Cóclea/efectos de los fármacos , Ganglio Espiral de la Cóclea/ultraestructura , Estría Vascular/efectos de los fármacos , Estría Vascular/ultraestructura , Hueso Temporal/ultraestructura
12.
J Laryngol Otol ; 122(3): 277-81, 2008 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-17524172

RESUMEN

OBJECTIVE: The aim of this study was to evaluate the outcomes of therapeutic intervention in patients with mutational falsetto, by applying perceptual and acoustic analysis before and after voice therapy. MATERIALS AND METHODS: Forty-five consecutive patients with mutational falsetto were studied retrospectively. Acoustic analysis (i.e. fundamental frequency, jitter, shimmer, and formants one, two and three) was performed using the Multi-Dimensional Voice Program. Perceptual voice analyses were performed, including graded severity-roughness-breathiness-aesthenicity-strain assessment. RESULTS: Subjects' fundamental frequency, voice formants one, two and three, jitter, and shimmer were greater before than after treatment. There were statistically significant differences between pre- and post-treatment average values for fundamental frequency, jitter and shimmer. There were also statistically significant differences between pre- and post-treatment average values for formants one and two. These results were maintained after six months of follow up, and there was no significant difference between results at three- and six-month follow up. According to perceptual evaluation, each subject's voice had altered from mutational falsetto to chest voice by completion of the intervention. Thus, all of the patients successfully lowered their modal speaking voice to an appropriate level. CONCLUSION: In the light of objective evaluations, and by applying the study treatment protocol, these results suggest that normal voice can be maintained after intervention, at six months' follow up.


Asunto(s)
Medición de la Producción del Habla/métodos , Logopedia/métodos , Trastornos de la Voz/terapia , Adolescente , Adulto , Femenino , Humanos , Laringe/ultraestructura , Masculino , Fonación , Pubertad/psicología , Estudios Retrospectivos , Acústica del Lenguaje , Medición de la Producción del Habla/psicología , Logopedia/psicología , Resultado del Tratamiento , Calidad de la Voz
13.
J Laryngol Otol ; 121(9): 845-9, 2007 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-17125576

RESUMEN

AIMS: The aim of this study was to investigate hearing loss in patients with ankylosing spondylitis. STUDY DESIGN: Prospective, case-control study. METHODS: Fifty-nine ankylosing spondylitis patients (118 ears) and 52 healthy control subjects (104 ears) were included. Pure tone audiometry at 250, 500, 1000, 2000, 4000 and 6000 Hz and immittance measures, including tympanometry and acoustic reflex tests, were performed in the patients and controls. RESULTS: Sensorineural hearing loss was found in 21 patients (35.5 per cent), bilateral in 15 patients and unilateral in six. Pure tone thresholds significantly differed between patients and controls at all frequencies (p<0.05). There was no statistically significant difference between the right and the left ears' thresholds at all frequencies, except at 4000 Hz in ankylosing spondylitis patients. The right ears' thresholds were higher than those of the left ears. Patients' pure tone average (PTA) thresholds were significantly different from those of controls in all three PTA groups (i.e. 250 Hz; 500, 1000 and 2000 Hz; and 4000 and 6000 Hz) (p<0.05). The differences were most prominent in the higher frequencies. CONCLUSION: Our findings suggest a decreased hearing level in ankylosing spondylitis patients, mostly at high frequencies, although the pure tone thresholds of patients and controls significantly differed at all frequencies.


Asunto(s)
Pérdida Auditiva Sensorineural/etiología , Espondilitis Anquilosante/complicaciones , Adolescente , Adulto , Anciano , Audiometría de Tonos Puros , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Turquía/epidemiología
14.
Neuroradiology ; 44(10): 864-7, 2002 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-12389140

RESUMEN

We report a child with a giant upper cervical internal carotid artery pseudoaneurysm presenting with dysphagia, respiratory distress and a sentinel mild epistaxis, then massive epistaxis. Rupture of the pseudoaneurysm during treatment occurred, as in one reported case. Prompt endovascular treatment yielded a good outcome.


Asunto(s)
Fístula del Seno Cavernoso de la Carótida/terapia , Arteria Carótida Interna , Fístula del Seno Cavernoso de la Carótida/complicaciones , Fístula del Seno Cavernoso de la Carótida/diagnóstico , Angiografía Cerebral , Niño , Trastornos de Deglución/etiología , Epistaxis/etiología , Femenino , Humanos , Angiografía por Resonancia Magnética , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X
15.
J Clin Pediatr Dent ; 21(4): 341-55, 1997.
Artículo en Inglés | MEDLINE | ID: mdl-9484124

RESUMEN

The dental, clinical, genetic, radiological and dermatoglyphic findings in patients from a large kindred with congenital hypodontia of maxillary lateral incisors (CHMLI) in association with coloboma of the iris (Cl) and hypomaturation type of amelogenesis imperfecta (HTAI) are presented. The pedigree of the kindred showing multiple consanguinaeous marriages and the findings of the family members with CHMLI and a family member with CHMLI, Cl and HTAI and two members with both CHMLI and HTAI suggested that the isolated CHMLI was due to an autosomal recessive gene, but, the Cl was determined by an autosomal dominant gene linked to CHMLI gene. HTAI was an autosomal recessive character linked to both CHMLI and Cl.


Asunto(s)
Anomalías Múltiples/genética , Amelogénesis Imperfecta/genética , Anodoncia/genética , Coloboma/genética , Iris/anomalías , Adulto , Amelogénesis Imperfecta/complicaciones , Anodoncia/complicaciones , Niño , Coloboma/complicaciones , Dermatoglifia , Femenino , Genes Dominantes , Ligamiento Genético , Humanos , Incisivo , Masculino , Maxilar , Linaje
16.
J Clin Pediatr Dent ; 20(2): 161-72, 1996.
Artículo en Inglés | MEDLINE | ID: mdl-8619979

RESUMEN

The clinical, genetic, radiological and dermatoglyphic findings of a case showing generalized microdontia associated with an extra maxillary central incisor, hypoplastic maxilla, prognathic mandible, wide-set of the ears, hooked nose, astigmatism, camptodactyly, flexion contractures of the distal interphalangeal joints of the fingers, thinning of the fingers towards the distal end of the palm, and complete webbing of the IVth and Vth toes (syndactyly type III) and short stature were presented.


Asunto(s)
Anomalías Múltiples/patología , Dermatoglifia , Anomalías Maxilomandibulares/genética , Anomalías Dentarias/genética , Adolescente , Femenino , Deformidades Congénitas de la Mano/genética , Humanos , Masculino , Linaje , Prognatismo/genética , Sindactilia/genética , Diente Supernumerario/genética
17.
J Clin Pediatr Dent ; 20(3): 247-51, 1996.
Artículo en Inglés | MEDLINE | ID: mdl-8634215

RESUMEN

This case report contains the dental, genetic and dermatoglyphic findings of a patient showing bilateral maxillary central incisors fused to an extra one and his paternal uncle having macrodontia of central incisor teeth.


Asunto(s)
Dermatoglifia , Dientes Fusionados/genética , Incisivo/anomalías , Diente Supernumerario/genética , Adulto , Dientes Fusionados/complicaciones , Humanos , Lactante , Masculino , Maxilar , Linaje , Diente Primario/anomalías , Diente Supernumerario/complicaciones
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