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Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
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Seminars in Pediatric Surgery, 2021
Congenital airway anomalies (CAA) include a variety of conditions that cause respiratory distress in neonates and infants. These malformations occur at various anatomic levels and manifest in a wide spectrum of airway symptoms, with presentation significantly influenced by the level at which obstruction occurs as well as by the severity of obstruction.
Patricio, Varela, Claudia, Schweiger
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Congenital airway anomalies (CAA) include a variety of conditions that cause respiratory distress in neonates and infants. These malformations occur at various anatomic levels and manifest in a wide spectrum of airway symptoms, with presentation significantly influenced by the level at which obstruction occurs as well as by the severity of obstruction.
Patricio, Varela, Claudia, Schweiger
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Congenital Umbilical Anomalies
Archives of Dermatology, 1964Recognition of congenital umbilical anomalies is important because of the potential seriousness of associated internal malformations. Congenital lesions of the umbilicus of special interest to the dermatologist arise from abnormalities in the development of two embryologic structures: the omphalomesenteric (vitelline) duct and the urachus.
T E, NIX, C J, YOUNG
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Current Treatment Options in Cardiovascular Medicine, 2004
Congenital vascular anomalies are rare. The cardiovascular specialist should nevertheless be aware of the more common types of vascular anomalies and understand the implications for patient treatment and the likelihood of associated morbidity. The presentation of congenital arteriovenous malformations can range from asymptomatic or cosmetic lesions, to
Edwin C., Gravereaux +2 more
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Congenital vascular anomalies are rare. The cardiovascular specialist should nevertheless be aware of the more common types of vascular anomalies and understand the implications for patient treatment and the likelihood of associated morbidity. The presentation of congenital arteriovenous malformations can range from asymptomatic or cosmetic lesions, to
Edwin C., Gravereaux +2 more
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Congenital Laryngeal Anomalies
Otolaryngologic Clinics of North America, 1981The physician who is called upon to evaluate stridor in the newborn must be familiar with common congenital lesions of the larynx. Congenital stridor is a symptom of an underlying problem that must be accurately diagnosed to be properly and effectively managed.
R T, Cotton, M A, Richardson
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CONGENITAL BRANCHIOGENOUS ANOMALIES
Journal of the American Medical Association, 1959Branchiogenous anomalies are of interest because of the varying clinical pictures they present after secondary infection or occlusion. Although the diagnosis of a branchiogenous anomaly may be evident, at times, it is difficult to evaluate the depth or extent of the associated tract.
P H, JACOBS, J C, SHAFER, R S, HIGDON
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The Journal of Bone and Joint Surgery. British volume, 1979
A review of seventy-one children with sacral anomalies is presented. The aetiology is discussed and a classification of sacral anomalies is suggested, with three groups of patients: agenetic, dysgenetic and dysraphic. The clinical presentation of each group is discussed and the high incidence of congenital visceral and skeletal abnormalities is ...
J K, Stanley, R, Owen, S, Koff
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A review of seventy-one children with sacral anomalies is presented. The aetiology is discussed and a classification of sacral anomalies is suggested, with three groups of patients: agenetic, dysgenetic and dysraphic. The clinical presentation of each group is discussed and the high incidence of congenital visceral and skeletal abnormalities is ...
J K, Stanley, R, Owen, S, Koff
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Otolaryngologic Clinics of North America, 2007
Congenital tracheal lesions are rare, but important, causes of morbidity in infants and children. Consequently, experience in their management is limited and dispersed. Given its small diameter, the juvenile trachea is obstructed easily by various natural causes, or following a surgical intervention. The diagnosis of a congenital, tracheal, obstructive
Kishore, Sandu, Philippe, Monnier
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Congenital tracheal lesions are rare, but important, causes of morbidity in infants and children. Consequently, experience in their management is limited and dispersed. Given its small diameter, the juvenile trachea is obstructed easily by various natural causes, or following a surgical intervention. The diagnosis of a congenital, tracheal, obstructive
Kishore, Sandu, Philippe, Monnier
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Pediatrics, 1951
I AM greatly honored by the Award which the American Academy of Pediatrics has bestowed upon me and I am certain that this recognition of our studies will stimulate my co-workers and myself to further efforts in the line of work which we began about 12 years ago.
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I AM greatly honored by the Award which the American Academy of Pediatrics has bestowed upon me and I am certain that this recognition of our studies will stimulate my co-workers and myself to further efforts in the line of work which we began about 12 years ago.
openaire +2 more sources