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Paediatric Respiratory Reviews Jan 2016
Topics: Congenital Abnormalities; Humans; Laryngomalacia; Larynx; Respiratory System Abnormalities; Tracheoesophageal Fistula; Tracheomalacia
PubMed: 26620224
DOI: 10.1016/j.prrv.2015.09.007 -
Ugeskrift For Laeger Mar 2017Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by uterovaginal agenesis in females with normal secondary sex characteristics and... (Review)
Review
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by uterovaginal agenesis in females with normal secondary sex characteristics and normal karyotype (46,XX). The prevalence of MRKH syndrome is one in 5,000 live female births as recently confirmed by a nationwide population-based study in Denmark. This review kaleidoscopically summarizes the current knowledge of the history, genetics, diagnostics, treatment of vaginal agenesis, psychosexual aspects, and fertility options in MRKH syndrome.
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Female; Humans; Infertility, Female; Magnetic Resonance Imaging; Mullerian Ducts
PubMed: 28397650
DOI: No ID Found -
American Journal of Otolaryngology 2021Laryngeal cleft is a congenital condition in which an opening in the posterior laryngotracheal wall allows food and liquid to pass from the esophageal lumen to the... (Review)
Review
INTRODUCTION
Laryngeal cleft is a congenital condition in which an opening in the posterior laryngotracheal wall allows food and liquid to pass from the esophageal lumen to the airway and causes aspiration. The severity of a laryngeal cleft is measured using the Benjamin-Inglis system, and can be managed conservatively or with a variety of surgical options With increased awareness, higher suspicion among primary physicians, advanced technology and improved intensive neonatal care services, more babies with laryngeal clefts survive in the modern era. Therefore, the focus has shifted from infant survival to treatment of laryngeal clefts and the challenging, complex medical conditions they create.
OBJECTIVE
To understand current laryngeal cleft management and post-operative outcomes.
METHODS
Literature review of laryngeal cleft studies from 2010 to 2021.
RESULTS
A total of 1033 patients were included. Based on 415 cases for whom sufficient classification data were available, the predominate symptom for patients with type I, III, and IV clefts is swallowing dysfunction, while the predominant symptoms for patients with type II clefts are stridor and aspiration. A wide variety of comorbidities involving several major organs has been reported with laryngeal clefts, which tend to impact clinical outcomes negatively. Approximately 19% of type I clefts have been treated conservatively successfully, but the majority was treated surgically. Most studies that used injection laryngoplasty for type I clefts reported highly successful repairs without complications or delays in additional procedures. Ninety-eight percent all type II clefts were treated with endoscopic repair; 87% of patients with type III clefts received endoscopic repair; and 66% of patients with type IV clefts underwent open surgery. Approximately 62% of resolved cases were reported within 12 months, while 50.87% of failed cases were reported within 6 weeks.
CONCLUSIONS
There are multiple treatment approaches, each of which may be applicable depending on factors such as laryngeal cleft type, severity of presentation, and comorbidities. Conservative approaches appear to be most useful for type I clefts or in patients with mild symptoms, while surgical management can be considered for any type of laryngeal cleft. The benefit of injection laryngoplasty, endoscopic repair and open surgery can also vary, but injection laryngoplasty and endoscopic repair are used most commonly. Open surgery should be to be considered if patients present with severe cleft types or if it is unsafe to perform other surgical techniques. Familiarity with this literature review should help clinicians understand clinical characteristics, direct medical management, and guide successful resolution of laryngeal clefts.
Topics: Congenital Abnormalities; Endoscopy; Female; Humans; Infant, Newborn; Laryngoplasty; Larynx; Male; Otorhinolaryngologic Surgical Procedures; Severity of Illness Index; Survival Rate; Time Factors; Treatment Outcome
PubMed: 33957543
DOI: 10.1016/j.amjoto.2021.103072 -
Journal of Pediatric and Adolescent... Dec 2014The nonobstructive group of anatomic variants involving the reproductive tract includes vaginal agenesis as well as the congenital anomalies of the vagina and uterus,... (Review)
Review
BACKGROUND
The nonobstructive group of anatomic variants involving the reproductive tract includes vaginal agenesis as well as the congenital anomalies of the vagina and uterus, occurring without pain during the pubertal years.
OBJECTIVE
The objective is to discuss the non-obstructive morphologic variations in anatomy of the uterus and vagina.
DESIGN
Systematic review using the GRADE system.
RESULTS
These congenital anomalies are not associated with abnormalities of the external genitalia and therefore may be missed on routine physical examination. When these anomalies do cause symptoms they may be as minor as difficulty with menstrual hygiene or more significant such as primary amenorrhea, dyspareunia, recurrent pregnancy loss, and reproductive complications.
CONCLUSIONS
Women with non-obstructive reproductive tract anomalies present at various ages due to the asymptomatic nature or late symptom onset of certain conditions. An MRI is the gold standard in evaluation of such conditions to aid in confirming the müllerian variant. Each condition requires careful counseling because obstetric and gynecologic risks and consequences may differ. Treatment is individualized in cases of uterovaginal agenesis with both nonsurgical and surgical options available for neovagina creation. In cases of uterine or vaginal septae, the treatment timing may vary depending on patient history. Finally, in cases of non-obstructive communicating uterine horns, the risk of ectopic pregnancy is high in the remnant horn. Should a pregnancy occur in this small underdeveloped horn, therefore, excision is recommended.
Topics: Adult; Amenorrhea; Congenital Abnormalities; Dilatation; Dyspareunia; Female; Humans; Infertility, Female; Mullerian Ducts; Pregnancy; Pregnancy Complications; Surgically-Created Structures; Urogenital Abnormalities; Uterus; Vagina
PubMed: 25438707
DOI: 10.1016/j.jpag.2014.07.001 -
The Journal of Foot and Ankle Surgery :... 2023Brachymetatarsia is a congenital osseous and soft tissue deformity of a ray(s) of the foot. Because there is no particular consensus of methodology of lengthening for...
Brachymetatarsia is a congenital osseous and soft tissue deformity of a ray(s) of the foot. Because there is no particular consensus of methodology of lengthening for brachymetatarsia, the authors introduce a comprehensive anatomic classification and a surgical guide to treatment of each classification type. This classification combines the number of the metatarsal(s) affected and the letter(s) indicating the type of brachymetatarsia deformity (A = axial deficiency of the metatarsal, B = bowing of the metatarsal, C = congruency of metatarsal phalangeal joint). This study reviewed of 300 brachymetatarsals in 166 patients. Fifty of the 166 (30%) patients had bilateral brachymetatarsia. Of the 300 metatarsals with brachymetatarsia, 64 (21%) were first metatarsals, 22 (7%) were second metatarsals, 28 (9%) were third metatarsals, 12 (4%) were fifth metatarsals, and 174 (58%) were fourth metatarsals. Classification types that were found was a total of 165 (55%) type A, a total of 6 (2%) type B, a total of 72 (24%) type AB, a total of 39 (13%) type AC, and a total of 18 (6%) type ABC. A total of 16 (10%) male and 150 (90%) female patients were evaluated. The mean preoperative amount of shortening of the metatarsal was 15 mm (range, 4-20 mm), as determined by the preoperative metatarsal parabola deficiency, equating to 30% of the preoperative metatarsal length. Brachymetatarsia is a complex congenital deformity which until now has not been critically analyzed. This study outlines a comprehensive brachymetatarsia classification system which provides an accurate diagnosis of the deformity and offers a surgical treatment algorithm.
Topics: Humans; Male; Female; Osteogenesis, Distraction; Foot Deformities, Congenital; Metatarsal Bones; Metatarsus; Lower Extremity
PubMed: 35817705
DOI: 10.1053/j.jfas.2022.06.002 -
Pediatric Clinics of North America Feb 2020Evaluation of the pediatric musculoskeletal system may be difficult because of differences between children and adults. As children mature, their physical structure... (Review)
Review
Evaluation of the pediatric musculoskeletal system may be difficult because of differences between children and adults. As children mature, their physical structure approaches that of an adult. However, in the meantime, varying stages of ossification and developmental timelines may confuse the average clinician. Congenital abnormalities of the upper extremity are extremely numerous, but here we present 10 that often are seen in clinical practice. The article discusses the diagnosis, evaluation, treatment, and outcomes of each condition.
Topics: Child; Hand Deformities, Congenital; Humans
PubMed: 31779839
DOI: 10.1016/j.pcl.2019.09.011 -
Current Problems in Pediatric and... Mar 2018Laryngotracheoesophageal cleft (LTEC) is a rare anatomic cause of aspiration in the newborn and infant. The clinical presentation of infants with LTEC is variable and... (Review)
Review
Laryngotracheoesophageal cleft (LTEC) is a rare anatomic cause of aspiration in the newborn and infant. The clinical presentation of infants with LTEC is variable and will usually vary with the degree of anatomic communication between the airway and esophagus. The diagnosis of LTEC is often challenging, particularly in cases where the presentation and pathology are more subtle. Management of LTEC depends upon the clinical presentation, degree of aspiration, and anatomic depth of the cleft. The goal of this review is to present the clinician with a practical approach to diagnosis and management of this rare but challenging congenital airway anomaly.
Topics: Abnormalities, Multiple; Congenital Abnormalities; Esophagus; Humans; Larynx; Pneumonia, Aspiration; Practice Guidelines as Topic; Prognosis; Trachea
PubMed: 29571545
DOI: 10.1016/j.cppeds.2018.01.007 -
Clinical Pediatrics Jun 2019The incidence of congenital ear deformities has been documented to be as high as 58% of all newborns. Unfortunately, the majority of these deformations do not... (Review)
Review
The incidence of congenital ear deformities has been documented to be as high as 58% of all newborns. Unfortunately, the majority of these deformations do not spontaneously self-correct, leaving the child with a permanent deformity that can only be corrected through surgery. With the evolving simplicity of ear molding that can be done in the office, this can obviate the need for unnecessary surgery that comes with its own set of complications and a higher cost. Early detection and early treatment is key for successful ear molding. The purpose of this article is to review the types of deformational ear deformities and the most up-to-date literature on ear molding, increase awareness to this topic, and ultimately increase patient and parental satisfaction with their overall care.
Topics: Congenital Abnormalities; Cosmetic Techniques; Ear, External; Female; Humans; Infant, Newborn; Male
PubMed: 31007048
DOI: 10.1177/0009922819844296 -
Advances in Clinical and Experimental... Apr 2020The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and... (Review)
Review
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and the upper 2/3 of the vagina; its incidence is 1 in 4,000-5,000 female live births. We can distinguish 2 types of the MRKH syndrome: type I, which is characterized by an isolated absence of 2/3 of the vagina and uterus; and type II or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies), which is also associated with other symptoms. The treatment of the MRKH syndrome patients aims at creating a neovagina and enabling sexual intercourse. Non-surgical techniques are the first-choice methods, and more than 90% of patients notice an anatomical and functional improvement if they are well-prepared emotionally. If non-surgical treatment does not bring about the expected results, a surgical procedure remains an option. The surgical method is mainly determined by the surgeon's experience. There are a few types of operations, though none of them seems superior to others. The next challenge is to provide these patients with a chance to become parents. Nowadays, a uterine transplant, a surrogate or adoption are the available solutions. An interdisciplinary approach is required, and the treatment should consist of medical and psychological support. This review presents the current knowledge about the MRKH syndrome with regard to the current methods of non-surgical and surgical treatment as well as a summary of the associated psychological problems.
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Female; Humans; Mullerian Ducts; Uterus; Vagina
PubMed: 32348039
DOI: 10.17219/acem/118850 -
American Journal of Obstetrics and... Dec 2019
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Amniocentesis; Amniotic Band Syndrome; Anal Canal; Carpal Bones; Chorionic Villi Sampling; Congenital Bone Marrow Failure Syndromes; Diagnosis, Differential; Esophagus; Fanconi Anemia; Female; Genetic Testing; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Kidney; Limb Deformities, Congenital; Lower Extremity Deformities, Congenital; Microarray Analysis; Pregnancy; Radius; Spine; Thrombocytopenia; Thumb; Trachea; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Ultrasonography, Prenatal; Upper Extremity Deformities, Congenital; Valproic Acid
PubMed: 31787159
DOI: 10.1016/j.ajog.2019.09.024