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1.
Int J Pediatr Otorhinolaryngol ; 181: 111992, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38805935

ABSTRACT

OBJECTIVES: Sleep apnea is a prevalent issue in children, associated with significant morbidities such as cardiovascular and neurocognitive disorders. There is increasing interest in intra-capsular tonsillectomy by coblation (ICTC) as a method to address obstructive sleep apnea (OSA) in children. However, the literature remains controversial regarding the most effective intra-capsular tonsillectomy (ICT) technique with the least morbidity. Our current research extends a previous study that established the effectiveness and safety of ICTC, demonstrating rapid post-surgical recovery with minimal analgesic needs. This new investigation specifically focuses on long-term follow-up. Our aim is to assess tonsil regrowth and the risk of recurrence of OSA symptoms at a mean follow-up of 6.1 years post-surgery. By presenting the results of this extended study, our goal is to gain a better understanding of the long-term effectiveness of this surgical intervention in treating OSA in children. Thus, considering the initial benefits, we will also explore potential long-term implications. MATERIALS AND METHODS: This research follows up on children from our previous study who underwent ICTC, with or without adenoidectomy, for OSA resulting from tonsillar hypertrophy at a tertiary-level university hospital between March 2016 and March 2018. They were followed up for an average of 6.1 years postoperatively. Symptom recurrence is assessed by comparing preoperative OSA-18 questionnaire results with those obtained at the 6.1-year mark. Tonsil regrowth is evaluated by comparing preoperative Brodsky scores with those obtained at 6.1 years. RESULTS: The mean total score of OSA-18 significantly decreased from 79.41 (SD = 14.95) before ICTC to 25.47 (SD = 8.92) at 6.1 years postoperatively (p < 0.001, mean difference = 53.94, 95 % CI [50.32, 57.56]). Similarly, the mean Brodsky score dropped from 2.95 (SD = 0.51) before ICTC to 1.04 (SD = 0.24) 6.1 years postoperatively (p < 0.001, mean difference = 1.92, 95 % CI [1.80, 2.04]). The overall regrowth rate was 2.35 % (n = 2), with a revision surgery rate of 1.18 % (n = 1). CONCLUSION: ICTC exhibits minimal risk of tonsil regrowth and maintains long-term efficacy in preventing the recurrence of OSA symptoms. Therefore, it justifies broader utilization in addressing OSA symptoms arising from tonsillar hypertrophy in children.


Subject(s)
Palatine Tonsil , Recurrence , Sleep Apnea, Obstructive , Tonsillectomy , Humans , Tonsillectomy/methods , Female , Male , Child , Sleep Apnea, Obstructive/surgery , Palatine Tonsil/pathology , Palatine Tonsil/surgery , Child, Preschool , Treatment Outcome , Follow-Up Studies , Hypertrophy/surgery
2.
Otolaryngol Head Neck Surg ; 170(1): 1-12, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37473440

ABSTRACT

OBJECTIVE: The goal of this study is to evaluate the sensitivity and specificity of computed tomography (CT) scans in the diagnosis of foreign body aspiration (FBA) in children, and to determine whether chest CT scans would reduce the need for diagnostic rigid bronchoscopies. DATA SOURCES: MEDLINE, EMBASE, Scopus, and the Cochrane Central Register of Controlled Trials (CENTRAL) databases were searched for relevant articles and conference proceedings that were published in English through November 1, 2022. REVIEW METHODS: We included prospective and retrospective studies comparing chest CT scans and rigid bronchoscopy for the diagnosis of FBA in pediatric patients (<16 years old). The pooled estimates of the sensitivity and specificity of the chest CT scan in the diagnosis of FBA were calculated using a fixed- or common-effects analysis and a random-effects analysis that accounts for heterogeneity if present. Forest plots were constructed to combine the evidence identified during the systematic review. RESULTS: Eighteen articles (4178 patients) were included. The average age of the children was 2.26 (±0.75) years, and 65% (±5.64%) of them were boys. Cough was the most prevalent symptom upon presentation. The pooled analysis showed that the sensitivity of chest CT scan in detecting a foreign body in children was 99% (95% confidence interval, CI [97, 100]; I2 = 72%, τ2 = 0.0065, p < .01). The false negative rate was 1.8% (95% CI [0.3, 2.7]; I2 = 72%, p < .01). The specificity of chest CT scan was 92% (95% CI [83, 98]; I2 = 83%, τ2 = 0.0437, p < .01). CONCLUSIONS: Chest CT scan is a sensitive and specific test for the diagnosis of FBA in the pediatric population. Its use can help to reduce unnecessary rigid bronchoscopies, especially in patients with a low clinical suspicion of aspiration. It should not be a replacement for the gold standard bronchoscopy, particularly in cases where there is a clear history and symptoms suggestive of aspiration.


Subject(s)
Foreign Bodies , Tomography, X-Ray Computed , Male , Child , Humans , Infant , Child, Preschool , Adolescent , Female , Retrospective Studies , Prospective Studies , Tomography, X-Ray Computed/methods , Bronchoscopy/methods , Respiratory Aspiration/diagnostic imaging , Foreign Bodies/diagnostic imaging
3.
Laryngoscope ; 133(12): 3247-3255, 2023 12.
Article in English | MEDLINE | ID: mdl-37067019

ABSTRACT

OBJECTIVE: This study aims to compare the effectiveness of intranasal ipratropium bromide (INIB) to a placebo in reducing nasal symptoms, particularly rhinorrhea, and enhancing quality of life in non-allergic rhinitis (NAR) patients. STUDY DESIGN: Systematic review and meta-analysis. METHODS: A comprehensive review of the literature was conducted on Medline, Embase, and Cochrane libraries. Randomized controlled trials (RCTs) and non-randomized comparative parallel group trials comparing IB nasal spray to placebo were included. RESULTS: Five RCTs assessed a total of 472 participants with a diagnosis of NAR. IB nasal spray 0.03% were used across all studies. IB has a better impact on decreasing rhinorrhea than the placebo, with a standardized mean difference (SMD) of 0.93 (95% CI 0.06-1.8). The mean change in rhinorrhea severity was 85% (95% CI 77-92%) and I^2 26% (p = 0.24). IB outperformed the placebo in terms of shortening the symptom's duration/day, as shown by an SMD of 0.35 (95% CI 0.15-0.55). The difference between treatments was noticeable within the first week and remained consistent throughout the treatment. Patients who were administered IB experienced a substantially greater improvement in physical and mental outcomes. Nasal adverse events with IB were generally intermittent and brief. CONCLUSION: Compared with a placebo, IB nasal spray is both safe and effective in treating the rhinorrhea associated with NAR. IB significantly reduces the severity and duration of rhinorrhea. The treatment was determined to be beneficial by both patients and physicians and resulted in a better quality of life. LEVEL OF EVIDENCE: 1 Laryngoscope, 133:3247-3255, 2023.


Subject(s)
Ipratropium , Rhinitis , Humans , Ipratropium/adverse effects , Rhinitis/drug therapy , Rhinitis/chemically induced , Nasal Sprays , Administration, Intranasal , Nasal Mucosa , Rhinorrhea
4.
Int J Pediatr Otorhinolaryngol ; 150: 110890, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34411867

ABSTRACT

INTRODUCTION: There is a growing interest in intra-capsular coblation tonsillectomy (ICT) for the treatment of obstructive sleep apnea (OSA) in children. Literature remains controversial regarding which intra-capsular tonsillectomy (IT) technique is most effective and with least morbidity. Therefore, the aims of this study are to objectively measure the post-operative morbidity and the effectiveness of the ICT technique. MATERIALS AND METHODS: 107 children undergoing ICT (with or without adenoidectomy) for upper airway obstruction due to tonsillar hypertrophy at a tertiary center university hospital were prospectively enrolled from March 2016 to March 2018. Efficacy of the surgery was assessed by a pre-and post-operative Obstructive Sleep Apnea score (OSA-18). Post-operative morbidity was measured based on the Parent's Post-operative Pain Measure questionnaire (PPPM), type and duration of administered pain medication, time before resuming a full diet and a normal activity, readmission for dehydration and post-operative bleeding incidence. RESULTS: After a mean follow-up of 21.6 months, OSA-18 mean total score was 78.77 (SD = 15.74) before ICT and 23.7 (SD = 9.25) after surgery, with a significant difference between pre-operative and post-operative scores (p < 0.001). Mean PPPM scores were low at all evaluation points (5.89, 2.42 and 0.83 at days 2, 5 and 10 respectively). Analgesic use was restricted to acetaminophen in nearly all children for a mean duration of 1.93 days. They resumed a normal diet after 2.42 days and a normal activity (including return to school) after 2.7 days. No hospital readmission nor post-operative hemorrhage were reported. CONCLUSION: Intra-capsular tonsillectomy by coblation is an effective and safe procedure that provides rapid post-operative recovery with minimal analgesic requirements, thus deserving a wider application in treating upper airway obstruction due to tonsillar hypertrophy in children.


Subject(s)
Tonsillectomy , Adenoidectomy , Child , Humans , Pain, Postoperative/etiology , Palatine Tonsil , Prospective Studies , Tonsillectomy/adverse effects
5.
Otolaryngol Head Neck Surg ; 165(6): 784-790, 2021 12.
Article in English | MEDLINE | ID: mdl-33820467

ABSTRACT

OBJECTIVES: To systematically review the literature to evaluate the indications, safety, and efficacy of the Draf IIb procedure and to evaluate the added advantages of technical factors such as stents and flaps. DATA SOURCES: Articles published until July 2019 on Medline and Cochrane databases. REVIEW METHODS: After a systematic review based on the 2018 PRISMA guidelines was conducted, 26 of 1533 articles were included and reviewed for indications of Draf IIb; surgical technique; use of flaps, stents, grafts, or mitomycin; complications during and after surgery; and success or recurrence rate. RESULTS: The main indication for Draf IIb was chronic frontal rhinosinusitis (61.82%). The postoperative patency rate was 87.85%. When flaps/grafts were applied, the rate was 93.5%, but their added value was not statistically significant. Stents could be an alternative for revision surgery. Treating frontal pathologies other than chronic rhinosinusitis was also satisfying. Safety was comparable to Draf III: no perioperative complications were reported, only a few postoperative ones (eyelid ecchymosis and periorbital cellulitis in 0.2% of the cases, hyposmia in 1.55%). CONCLUSION: When properly indicated, Draf IIb frontal drilling is a safe and highly effective surgical technique for frontal pathology treatment, with efficiency and safety comparable to the Draf III, making it a valid option when a bilateral approach is not needed. More studies are required to confirm the added values of flaps, grafts, and stents.


Subject(s)
Endoscopy/methods , Frontal Sinus/surgery , Nasal Surgical Procedures/methods , Paranasal Sinus Diseases/surgery , Surgical Flaps , Humans , Postoperative Complications , Rhinitis/surgery , Sinusitis/surgery , Stents
6.
BMC Med Genomics ; 12(1): 11, 2019 01 21.
Article in English | MEDLINE | ID: mdl-30665423

ABSTRACT

BACKGROUND: The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biology and made the genetic information accessible at a large scale. However, connecting a rare genetic variation to a complex phenotype remains challenging. Indeed, identifying the cause of a genetic disease requires a multidisciplinary approach, starting with the establishment of a clear phenotype with a detailed family history and ending, in some cases, with functional assays that are crucial for the validation of the pathogenicity of a mutation. METHODS: Two hundred Lebanese patients, presenting a wide spectrum of genetic disorders (neurodevelopmental, neuromuscular or metabolic disorders, etc.), sporadic or inherited, dominant or recessive, were referred, over the last three and a half years, to the Medical Genetics Unit (UGM) of Saint Joseph University (USJ). In order to identify the genetic basis of these diseases, Whole Exome Sequencing (WES), followed by a targeted analysis, was performed for each case. In order to improve the genetic diagnostic yield, WES data, generated during the first 2 years of this study, were reanalyzed for all patients who were left undiagnosed at the genetic level. Reanalysis was based on updated bioinformatics tools and novel gene discoveries. RESULTS: Our initial analysis allowed us to identify the specific genetic mutation causing the disease in 49.5% of the cases, in line with other international studies. Repeated WES analysis enabled us to increase the diagnostics yield to 56%. CONCLUSION: The present article reports the detailed results of both analysis and pinpoints the contribution of WES data reanalysis to an efficient genetic diagnosis. Lessons learned from WES reanalysis and interpretation are also shared.


Subject(s)
Exome Sequencing , Exome/genetics , Genetic Diseases, Inborn/diagnosis , Genetic Diseases, Inborn/genetics , Molecular Diagnostic Techniques , High-Throughput Nucleotide Sequencing , Humans , Lebanon
8.
J Med Liban ; 62(2): 119-22, 2014.
Article in English | MEDLINE | ID: mdl-25011376

ABSTRACT

In our modern medical practice, rhinoliths are a rare occurrence, but they ought to be considered in the differential diagnosis of a long-standing nasal obstruction. They are known to cause unilateral nasal discharge, facial pain, headache, epistaxis, and nasal obstruction. We present two cases that we encountered in our practice, and discuss them with a review of the existing literature.


Subject(s)
Lithiasis/complications , Nasal Obstruction/etiology , Adult , Female , Humans , Lithiasis/diagnosis , Lithiasis/surgery , Male , Nasal Obstruction/diagnosis , Nasal Obstruction/surgery , Young Adult
9.
J Med Liban ; 62(1): 7-13, 2014.
Article in French | MEDLINE | ID: mdl-24684120

ABSTRACT

AIM OF THE STUDY: To define the predictive factors of recurrence of the pediatric acquired cholesteatoma in order to improve the long-term results, to restore a good hearing function and to prevent the complications. PATIENTS AND METHODS: A retrospective study concerning all cases of pediatric acquired cholesteatoma, treated during the period 1997-2008 in our center, and followed up for at least one year. A description of the parameters concerning the patients, disease and treatment as well as a univariate analysis were undertaken in order to determine the recurrence predictors. The recurrence-free survival was calculated using the Kaplan-Meier method. RESULTS: 26 ears were studied and followed over a mean period of 62 months after the first intervention. The mean age was 12 years (11.7 years) with a 2.7 sex-ratio. The main clinical presentations were otorrhea (65%) and hypoacusia in 42% of cases. Fifteen cases (57.7%) presented an extension to the mastoid, 50% of the ears had an ossicular erosion and 11 cholesteatomas revealed a local or regional invasion. Almost 3/4 (73%) of the cholesteatomas were treated using a canal wall up surgery. The cumulative rate of recurrence was 53.8% and the rate of recurrence-free survival was 84%, 56%, and 44.7% at 12, 24 and 36 months respectively. Only the extension of the cholesteatoma to the mastoid, and the local and regional invasion (sinus tympani, lateral semi-circular canal, facial nerve recess, etc.) of the cholesteatoma at diagnosis, showed a significant higher risk of recurrence (p < 0.05). CONCLUSION: In our study, the extent of the disease at diagnosis is considered as the major predictive factor of recurrence in pediatric acquired cholesteatoma population raising the problem of delayed diagnosis.


Subject(s)
Cholesteatoma, Middle Ear/diagnosis , Cholesteatoma, Middle Ear/surgery , Postoperative Complications/diagnosis , Adolescent , Child , Child, Preschool , Cholesteatoma, Middle Ear/pathology , Disease Progression , Ear Ossicles/pathology , Ear Ossicles/surgery , Ear, Middle/pathology , Ear, Middle/surgery , Female , Humans , Lebanon , Male , Mastoid/pathology , Mastoid/surgery , Postoperative Complications/pathology , Postoperative Complications/surgery , Prognosis , Recurrence , Reoperation , Retrospective Studies , Risk Factors
10.
Int J Pediatr Otorhinolaryngol ; 74(8): 952-5, 2010 Aug.
Article in English | MEDLINE | ID: mdl-20554033

ABSTRACT

Hypoplasia of the epiglottis is a rarely reported anomaly. These patients may have complex malformations or are totally asymptomatic. We herewith present the case of a 26-month-old infant who was repeatedly treated for severe aspiration pneumonias that didn't resolve with gastrostomy. The role of epiglottis in protecting the airway is an unsolved question. The long-term evolution of hypoplasic epiglottis cases is also not known. The presentation and the evolution in cases of epiglottic anomalies vary a lot to deduce a trend. Close specialized follow-up is needed to answer these questions and to optimize these patients' prognosis.


Subject(s)
Epiglottis/abnormalities , Epiglottis/surgery , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/surgery , Child, Preschool , Follow-Up Studies , Fundoplication/methods , Gastrostomy/methods , Humans , Laryngoscopy/methods , Male , Pneumonia, Aspiration/diagnosis , Pneumonia, Aspiration/etiology , Rare Diseases , Risk Assessment , Treatment Outcome
11.
Pediatr Emerg Care ; 26(5): 376-7, 2010 May.
Article in English | MEDLINE | ID: mdl-20453794

ABSTRACT

Lemierre syndrome is a potentially fatal condition after an oropharyngeal infection. It is characterized by thrombophlebitis of head and neck veins with systemic dissemination of septic emboli. The most frequently isolated pathogen is Fusobacterium necrophorum. We report an unusual case of Lemierre syndrome in a 4-year-old child caused by Staphylococcus aureus, with multivisceral emboli to the brain, orbits, lungs, and heart valves. We also discuss its atypical clinical presentation, the crucial role of imaging in the early diagnosis, and the different treatment modalities of this life-threatening syndrome.


Subject(s)
Brain Infarction/etiology , Pulmonary Embolism/etiology , Staphylococcal Infections/complications , Thromboembolism/etiology , Brain Infarction/diagnosis , Child, Preschool , Diagnosis, Differential , Fatal Outcome , Heart Valves , Humans , Male , Orbit , Pulmonary Embolism/diagnosis , Staphylococcal Infections/diagnosis , Staphylococcal Infections/microbiology , Staphylococcus aureus/isolation & purification , Syndrome , Thromboembolism/diagnosis , Tomography, X-Ray Computed
12.
Am J Crit Care ; 19(2): 198-7, 2010 Mar.
Article in English | MEDLINE | ID: mdl-19383761

ABSTRACT

A 3-month-old boy was admitted to the intensive care unit because of septic shock; he required immediate intubation and placement of a nasogastric tube. A confirmatory chest radiograph showed that the nasogastric tube was looping in the hypopharynx and needed to be repositioned. During removal of the nasogastric tube, the infant experienced hypercapnia and respiratory distress. These complications were due to looping and knotting of the nasogastric tube around the nasotracheal tube.


Subject(s)
Airway Obstruction/etiology , Hypercapnia/etiology , Intubation, Gastrointestinal/instrumentation , Intubation, Intratracheal/instrumentation , Shock, Septic/therapy , Equipment Failure , Humans , Infant , Intubation, Gastrointestinal/adverse effects , Intubation, Intratracheal/adverse effects , Laryngoscopy , Male
13.
J Clin Anesth ; 21(7): 514-6, 2009 Nov.
Article in English | MEDLINE | ID: mdl-19910176

ABSTRACT

A reusable Robertshaw red rubber double-lumen endotracheal tube (DLT) was placed to facilitate lung isolation for thoracoscopy in a 49-year-old atopic patient. In spite of its smooth insertion, it was then not possible to remove the DLT. Direct laryngoscopy showed severe laryngeal edema. After 48 hours of medical treatment with steroids, the trachea was extubated. The laryngeal edema could have been the result of physical and chemical irritation by the reusable rubber DLT itself, or from the substances formed during repeated cleaning and sterilization of the DLT. Atopic patients who are prone to developing latex allergy are also more liable to develop severe reactions to chemical, mechanical, and physical irritation from reusable red rubber DLTs or from the chemical solution used for its cleaning and sterilization.


Subject(s)
Intubation, Intratracheal/adverse effects , Latex Hypersensitivity/complications , Anesthesia, General , Equipment Reuse , Female , Humans , Hypersensitivity, Immediate/complications , Intubation, Intratracheal/instrumentation , Laryngeal Edema/complications , Laryngeal Edema/etiology , Laryngoscopy , Lung Neoplasms/pathology , Middle Aged , Preanesthetic Medication , Sterilization , Thoracoscopy , Tomography, X-Ray Computed
14.
Pediatr Emerg Care ; 25(10): 681-3, 2009 Oct.
Article in English | MEDLINE | ID: mdl-19834419

ABSTRACT

Lateral sinus thrombosis complicating head and neck infections is a rare but potentially life-threatening condition.We report 4 pediatric cases of lateral sinus thrombosis occurring in different settings (2 patients with acute otitis media, 1 patient with chronic otitis media, and another with acute tonsillitis) to emphasize the nonspecific clinical presentation of this complication. In all our cases, early diagnosis was missed.Keeping a high index of suspicion when dealing with these infections is a reasonable approach.


Subject(s)
Lateral Sinus Thrombosis/etiology , Otitis Media/complications , Tonsillitis/complications , Acute Disease , Anti-Bacterial Agents/therapeutic use , Child , Child, Preschool , Diagnosis, Differential , Fatal Outcome , Female , Humans , Infant , Lateral Sinus Thrombosis/diagnosis , Lateral Sinus Thrombosis/surgery , Magnetic Resonance Imaging , Male , Otitis Media/microbiology , Tomography, X-Ray Computed , Tonsillitis/microbiology
15.
J Pediatr Hematol Oncol ; 31(12): 907-10, 2009 Dec.
Article in English | MEDLINE | ID: mdl-19855305

ABSTRACT

OBJECTIVE: Sinonasal mucormycosis is a rare fulminant disorder that typically affects immunocompromised patients. This article focuses primarily on the clinical manifestations and the importance of early diagnosis and treatment of this disease. PATIENTS AND METHODS: Four pediatric cases of sinonasal mucormycosis encountered over an 8-year-period in our institution are reported. The initial presenting symptoms, physical examination, computed tomography, intraoperative, and histopathologic findings are described. The underlying immunosuppressive diseases are also outlined. RESULTS: The most common signs and symptoms were fever, rhinorrhea, facial erythema and edema, and very pale nasal mucosa. Despite these manifestations, the diagnosis of sinonasal mucormycosis was delayed, except in one child. Computed tomography scan findings were nonspecific and did not correlate well with surgical and pathologic findings. Treatment consisted in a combination of antifungal agents, multiple aggressive surgical debridements, and control of the underlying disease. In the postoperative course, 1 child died of the disease, 1 developed a persistent unilateral blindness, 1 was lost to follow-up, and the last 1 was cured with no sequelae. CONCLUSIONS: Sinonasal mucormycosis in the immunocompromised pediatric population is an uncommon but potentially fatal disease. A high index of suspicion is of utmost importance to decrease its related morbidity and mortality.


Subject(s)
Mucormycosis/complications , Paranasal Sinus Diseases/complications , Adolescent , Antifungal Agents/therapeutic use , Child, Preschool , Debridement , Decompression, Surgical , Fatal Outcome , Female , Humans , Immunocompromised Host , Magnetic Resonance Imaging , Male , Mucormycosis/diagnosis , Mucormycosis/therapy , Paranasal Sinus Diseases/diagnosis , Paranasal Sinus Diseases/therapy , Prognosis , Tomography, X-Ray Computed , Treatment Outcome
17.
Am J Med Genet A ; 132A(4): 398-401, 2005 Feb 01.
Article in English | MEDLINE | ID: mdl-15633182

ABSTRACT

Two sisters from a Lebanese family presented with slight developmental delay, short stature, congenital microcephaly, frontal bossing, mild hyperplastic supra-orbital ridges, broad nasal root, small dysplastic low-set ears, high arched palate, short neck, and hearing impairment. In addition, the oldest affected sister had esophageal atresia and the other sister had cleft palate. Temporal bone abnormalities included hypoplasia of the external auditory canal, small middle ear cavity, abnormal ossicles, and inner ear malformations with enlarged vestibular acqueducts. Differential diagnosis is discussed, and the possibility of a newly recognized autosomal recessive syndrome is raised.


Subject(s)
Abnormalities, Multiple/pathology , Ear/abnormalities , Face/abnormalities , Genes, Recessive/genetics , Abnormalities, Multiple/genetics , Child , Child, Preschool , Cleft Palate/pathology , Consanguinity , Esophageal Atresia/pathology , Facial Bones/abnormalities , Family Health , Female , Humans , Syndrome , Temporal Bone/abnormalities
19.
Am J Med Genet A ; 125A(1): 57-60, 2004 Feb 15.
Article in English | MEDLINE | ID: mdl-14755467

ABSTRACT

A boy is described with clinical features including post-natal short stature, short limbs, speech delay, relatively large skull, prominent metopic ridge, wide palpebral fissures, proptosis, epicanthic folds, capillary hemangioma between the eyes and nose, flat nasal bridge, everted and small nares, small ears with a narrow external auditory canal and thick lobes, short neck, brachydactyly, bilateral Simian creases, a single flexion crease of the first and fifth fingers, protruding abdomen, and bilateral cryptorchidism. Radiographs did not show any features of bone dysplasia. However, a delayed bone age was noted. The boy's parents are first cousins. To the best of our knowledge, this constellation of anomalies has not been reported before, and may be considered a new syndrome.


Subject(s)
Abnormalities, Multiple/pathology , Face/abnormalities , Growth Disorders/pathology , Limb Deformities, Congenital/pathology , Abnormalities, Multiple/genetics , Bone Diseases/pathology , Child, Preschool , Consanguinity , Fingers/abnormalities , Humans , Infant , Male , Syndrome
20.
Am J Med Genet A ; 120A(2): 276-82, 2003 Jul 15.
Article in English | MEDLINE | ID: mdl-12833414

ABSTRACT

Two sibs from one Lebanese family presented with congenital hearing loss, meatal atresia, preauricular tags and pits, branchial cysts or fistulae, strabismus, difficulty in opening the mouth wide enough, abnormal fifth fingers, somewhat short stature, and learning disability and patchy skin depigmentation in one. Temporal bone abnormalities identified on computed tomography included atresia of the external auditory canal with reduction in size of the middle ear, malformed ossicles, and unilateral internal auditory canal hypoplasia. Hand radiographs showed pointed phalanges of the 5th fingers with osseous erosions. Their father, his sister, and his half-brother had unilateral auricular pits and/or branchial cysts. Results of all laboratory investigations including sequencing of the EYA1 gene were normal. Differential diagnosis is discussed and the possibility of the report of a new autosomal dominant type of branchiogenic-deafness syndrome with variable expressivity is raised.


Subject(s)
Abnormalities, Multiple/genetics , Branchial Region , Deafness/complications , Ear/abnormalities , Genes, Dominant , Toes/abnormalities , Adult , Deafness/genetics , Female , Humans , Male , Pedigree , Siblings , Strabismus/genetics , Syndrome
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