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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 -
Orphanet Journal of Rare Diseases Dec 2011A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx,... (Review)
Review
A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of the clinical symptoms and therefore on the extent of the LC. Diagnosis is made either based on clinical manifestations or on investigations, such as endoscopy, X-ray, CT scan, performed for other conditions. Differential diagnoses include tracheo-bronchial fistula, gastro-esophageal reflux disease and neurological swallowing disorders, as well as laryngomalacia and laryngeal palsy. Prenatal diagnosis of LC has never been reported, although associated anomalies may be detected on fetal ultrasonography. Once the cleft is diagnosed, it is essential to determine its length to orient the management and treatment approach. Management involves maintenance of satisfactory ventilation, prevention of secondary pulmonary complications as a result of repeated aspirations, and adequate feeding. Endotracheal intubation may be required for respiratory distress in severe cases. Treatment requires endoscopic or external surgery to close the cleft. Surgery should be performed as early as possible to avoid complications related to aspiration and gastric reflux, except in type 0 and type 1 cases in which conservative measures must first be attempted. The prognosis is variable depending on the severity of the LC and associated malformations. Early diagnosis and appropriate treatment and management help to reduce mortality and morbidity.
Topics: Abnormalities, Multiple; Animals; Child; Child, Preschool; Congenital Abnormalities; Endoscopy; Esophagus; Female; Humans; Infant; Infant, Newborn; Larynx; Male; Prognosis; Rats; Trachea
PubMed: 22151899
DOI: 10.1186/1750-1172-6-81 -
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 -
Cureus Sep 2023Objective This study aimed to investigate the potential relationship between laryngomalacia and obesity as well as explore the interplay between laryngomalacia and...
Objective This study aimed to investigate the potential relationship between laryngomalacia and obesity as well as explore the interplay between laryngomalacia and obstructive sleep apnea using the Kids' Inpatient Database (KID) for the year 2016. Methods The Healthcare Cost and Utilization Project (HCUP) KID for 2016 provided a dataset for analysis. Patient demographics, diagnoses, and hospital characteristics were considered. Patients less than three years old were included due to the high prevalence of laryngomalacia in this age group. Results Among 4,512,196 neonatal admissions, 1,341 obesity cases and 11,642 laryngomalacia cases were analyzed. The frequency of laryngomalacia in patients with obesity was 578.1% higher than in the general population. Patients with obstructive sleep apnea (OSA) exhibited a 5,243.2% increase in laryngomalacia frequency compared to the overall population. Combining obesity and laryngomalacia resulted in a 6,738.5% increase in OSA frequency. Conclusions This study identified a significant correlation between obesity and increased laryngomalacia risk. The findings have important clinical implications for pediatric care, emphasizing the need to prevent childhood obesity to reduce laryngomalacia risk. Additionally, understanding these risk factors enables better risk stratification for laryngomalacia and potential OSA development.
PubMed: 37846256
DOI: 10.7759/cureus.45313 -
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 -
European Annals of Otorhinolaryngology,... Aug 2021
Topics: Glottis; Humans; Laryngomalacia
PubMed: 34144930
DOI: 10.1016/j.anorl.2021.05.016 -
European Annals of Otorhinolaryngology,... Feb 2013Laryngomalacia is the most common laryngeal disease of infancy. It is poorly tolerated in 10% of cases, requiring assessment and management, generally surgical. Surgery... (Review)
Review
Laryngomalacia is the most common laryngeal disease of infancy. It is poorly tolerated in 10% of cases, requiring assessment and management, generally surgical. Surgery often consists of supraglottoplasty, for which a large number of technical variants have been described. This surgery, performed in an appropriate setting, relieves the symptoms in the great majority of cases with low morbidity. However, few data are available concerning the objective results: preoperative and postoperative objective assessment of these infants is therefore necessary whenever possible. Noninvasive ventilation (NIV) may be indicated in some infants with comorbid conditions or failing to respond to surgical management.
Topics: Anesthesia, General; Diagnosis, Differential; Epiglottis; France; Humans; Infant; Infant, Newborn; Laryngomalacia; Laryngoscopy; Laser Therapy; Lasers, Gas; Microsurgery; Postoperative Care; Preoperative Care; Respiratory Sounds; Tracheotomy; Treatment Outcome
PubMed: 22835508
DOI: 10.1016/j.anorl.2012.04.003