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Orphanet Journal of Rare Diseases Sep 2015Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate... (Review)
Review
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia. During ageing, a narrow, convex nose becomes more prominent. The diagnosis MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. In patients with short stature and/or microtia, the patellae should be assessed with care by ultrasonography before age 6 or radiography thereafter. Mutations in one of five genes (ORC1, ORC4, ORC6, CDT1, and CDC6) of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78% of patients with MGS. Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly. Management should be directed towards in-depth investigation, treatment and prevention of associated problems, such as growth retardation, feeding problems, hearing loss, luxating patellae, knee pain, gonarthrosis, and possible pulmonary complications due to congenital pulmonary emphysema with or without broncho- or laryngomalacia. Growth hormone treatment is ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life (usually growth velocity normalizes after the first year) and with low levels of IGF1. At present, few data is available about reproduction of females with MGS, but the risk of premature labor might be increased. Here, we propose experience-based guidelines for the regular care and treatment of MGS patients.
Topics: Abnormalities, Multiple; Congenital Microtia; Female; Growth Disorders; Humans; Male; Micrognathism; Patella; Urogenital Abnormalities
PubMed: 26381604
DOI: 10.1186/s13023-015-0322-x -
Ear, Nose, & Throat Journal Dec 2019Laryngomalacia is an established cause of stridor and sleep-disordered breathing in children. However, the relationship between laryngomalacia and dysphagia has not been...
OBJECTIVES
Laryngomalacia is an established cause of stridor and sleep-disordered breathing in children. However, the relationship between laryngomalacia and dysphagia has not been well characterized. The objectives of this study were to (1) describe the patient characteristics, symptoms, and prevalence of dysphagia in children with laryngomalacia and (2) examine the effectiveness of supraglottoplasty in improving feeding.
METHODS
This was a retrospective study of patients with laryngomalacia who underwent a modified barium swallow study (MBSS) at a tertiary academic pediatric medical center between March 1, 2014, and March 1, 2018. Patients were excluded if they did not undergo a MBSS. Comorbidities, airway and feedings symptoms, MBSS results, and surgical history were recorded from each patient's electronic medical record.
RESULTS
Forty-four children met inclusion/exclusion criteria. The median age at presentation was 96 days. There was a male predominance (66%). About one-third had a genetic or neuromuscular comorbidity. Most children had stridor (93%) and feeding difficulty (86%), while 50% had parent-reported poor weight gain. Fifty-seven percent of patients had evidence of penetration or aspiration on MBSS. All patients with a positive MBSS had dysphagia symptoms. Fifty-seven percent of patients underwent supraglottoplasty. Postoperatively, 92% reported improvement in dysphagia symptoms.
CONCLUSION
Dysphagia is prevalent among a subset of children with laryngomalacia. Symptomatic children may benefit from a swallow evaluation to help determine the need for further intervention. Children who undergo supraglottoplasty for laryngomalacia have improved dysphagia at follow-up, though the amount of improvement directly attributable to surgery is unclear and warrants further investigation.
Topics: Deglutition Disorders; Female; Glottis; Humans; Infant; Laryngomalacia; Male; Prevalence; Plastic Surgery Procedures; Retrospective Studies
PubMed: 31119989
DOI: 10.1177/0145561319847459 -
European Annals of Otorhinolaryngology,... Aug 2021
Topics: Glottis; Humans; Laryngomalacia
PubMed: 34144930
DOI: 10.1016/j.anorl.2021.05.016 -
Turkish Archives of Otorhinolaryngology Dec 2016The aim of this study is to analyse the clinical symptoms, follow-up and treatment properties of the laryngomalacia patients that we encountered between 2009 and 2014.
OBJECTIVE
The aim of this study is to analyse the clinical symptoms, follow-up and treatment properties of the laryngomalacia patients that we encountered between 2009 and 2014.
METHODS
Records of 81 laryngomalacia patients who were followed up in our clinic between 2009 and 2014 were retrospectively analysed. Patients' gender, age, time of onset of the symptoms, chief complaints, other co-existing congenital laryngeal anomalies and treatment and follow-up properties were evaluated.
RESULTS
Of the 81 patients, 48 were male and 33 were female, and the mean age was 4.9 months. The average period of follow-up was 12.1 months. The chief complaints at the time of admission were stridor (100%) and episodic cyanosis with feeding (27.16%). Symptoms of 75 patients were resolved at an average of 8.2 months with conservative treatment. Three patients underwent supraglottoplasty. Tracheotomy and posterior cordotomy was performed for a patient with co-existing vocal cord paralysis. Additional tracheotomy was necessary for a patient with pulmonary co-morbidities and for another with co-existing subglottic stenosis.
CONCLUSION
Laryngomalacia is the most common cause of stridor in infants. The majority of laryngomalacia patients can be managed conservatively by close follow-up. For patients in whom respiratory and feeding problems persist or growth retardation develops, surgical treatment is performed. Tracheotomy may be necessary for a small group of patients with additional diseases.
PubMed: 29392037
DOI: 10.5152/tao.2016.1852 -
Brazilian Journal of Otorhinolaryngology 2014It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal... (Review)
Review
INTRODUCTION
It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway.
OBJECTIVES
To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies.
METHODS
Revision article, in which the main aspects concerning airway management of infants will be analyzed.
CONCLUSIONS
It is critical for clinicians to understand issues relevant to the airway management of infants.
Topics: Cysts; Hemangioma; Humans; Laryngeal Diseases; Laryngeal Neoplasms; Laryngomalacia; Laryngostenosis; Larynx; Vocal Cord Paralysis
PubMed: 25457074
DOI: 10.1016/j.bjorl.2014.08.001 -
Cureus Sep 2022Laryngomalacia is the term most broadly used to portray the "internal breakdown of structures of supraglottis of the larynx at the time of inspiration. It is often... (Review)
Review
Laryngomalacia is the term most broadly used to portray the "internal breakdown of structures of supraglottis of the larynx at the time of inspiration. It is often associated with stridor during inspiration, which is of a high pitch at the time of birth and comes into notice by 14 days. When there is an increase in breathing, stridor worsens, and it is usually position-dependent. Laryngomalacia means the weakening of the larynx resulting in a collapse of the laryngeal cartilages, especially the epiglottis, into the airway. This partially occludes the upper airway during inspiration and causes inspiratory stridor. The exact etiology of the condition is not known. It is a well-known cause of noisy breathing in neonates and infants. The common presentation is a neonate with flushing and high-pitched inspiratory stridor that is usually noticed before 14 days of age. This worsens with breathing and supine positioning and improves in a prone position. Less commonly, it can present with hypoxia, feeding problems, aspiration, and failure to thrive. The condition may increase in severity during early life but usually self-resolves by two years of age. The hiccup-like squeak of laryngomalacia during inspiration is due to unsettled air flowing through the laryngeal passage. The condition is diagnosed with laryngoscopy, and the treatment varies with presentation and severity. Neonates with the uncomplicated disease can be treated expectantly. Those presenting with feeding problems and gastroesophageal reflux will require acid suppression. Severe complications like aspiration, severe airway obstruction, and hypoxia will require surgical treatment, including supraglottoplasty. In cases where the surgical treatment failed, noninvasive ventilation can be advised. The article reviews the various medical and surgical interventions and the management of severe laryngomalacia.
PubMed: 36320975
DOI: 10.7759/cureus.29585