Results 271 to 280 of about 968,479 (311)
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Pediatric Annals, 2017
Congenital hyperinsulinism is a rare disorder that commonly presents in the immediate postnatal period as persistent hypoglycemia. The condition is frequently resistant to medical therapies, and the genetic mutations implicated in the disorder can be predictive of response to therapy.
Elena, Minakova, Alison, Chu
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Congenital hyperinsulinism is a rare disorder that commonly presents in the immediate postnatal period as persistent hypoglycemia. The condition is frequently resistant to medical therapies, and the genetic mutations implicated in the disorder can be predictive of response to therapy.
Elena, Minakova, Alison, Chu
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Congenital Muscular Dystrophy and Congenital Myopathy
Continuum, 2019Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy. This article summarizes the clinical and genetic aspects of these disorders.Historically, diagnoses of congenital muscular dystrophy and congenital myopathy have
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Pediatric Pulmonology, 1995
AbstractFifty‐two infants and children with stridor were examined. The median age was 5 months and the boy/girl ratio was 2:1. Fiberoptic bronchoscopy was performed when other diagnostic methods had failed to establish the origin of stridor. The most common cause of stridor was laryngornalacia, which was found in 34 children (65%). The most common form
G, Lis +2 more
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AbstractFifty‐two infants and children with stridor were examined. The median age was 5 months and the boy/girl ratio was 2:1. Fiberoptic bronchoscopy was performed when other diagnostic methods had failed to establish the origin of stridor. The most common cause of stridor was laryngornalacia, which was found in 34 children (65%). The most common form
G, Lis +2 more
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CONGENITAL ABNORMALITIES AND CONGENITAL HYPOTHYROIDISM
The Lancet, 1988J H, Lazarus, I A, Hughes
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Seminars in Fetal and Neonatal Medicine, 2005
Congenital hyperinsulinism is a cause of persistent hypoglycaemia in the neonatal period. It is a heterogeneous disease with respect to clinical presentation, molecular biology, genetic aetiology and response to medical therapy. The clinical heterogeneity may range from severe life-threatening disease to very mild clinical symptoms.
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Congenital hyperinsulinism is a cause of persistent hypoglycaemia in the neonatal period. It is a heterogeneous disease with respect to clinical presentation, molecular biology, genetic aetiology and response to medical therapy. The clinical heterogeneity may range from severe life-threatening disease to very mild clinical symptoms.
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1983
The early diagnosis of congenital nephropathies, sometimes before birth, is mandatory for the optimal management of affected children. While they do not always modify the final outcome of the disease, preventive measures can attenuate the consequences, and sometimes significantly delay the progression of the nephropathy.
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The early diagnosis of congenital nephropathies, sometimes before birth, is mandatory for the optimal management of affected children. While they do not always modify the final outcome of the disease, preventive measures can attenuate the consequences, and sometimes significantly delay the progression of the nephropathy.
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Congenital melanocytic naevus and congenital strabismus
Clinical and Experimental Dermatology, 2018C. Dubois +5 more
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Otolaryngologic Clinics of North America
Congenital cholesteatoma is a cyst of keratinizing squamous cell epithelium in the setting of an intact tympanic membrane, in a patient without a history of otorrhea, tympanic membrane perforation, or otologic surgery. The most common presentation of a congenital cholesteatoma is that of an asymptomatic pearly white mass in the anterosuperior quadrant ...
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Congenital cholesteatoma is a cyst of keratinizing squamous cell epithelium in the setting of an intact tympanic membrane, in a patient without a history of otorrhea, tympanic membrane perforation, or otologic surgery. The most common presentation of a congenital cholesteatoma is that of an asymptomatic pearly white mass in the anterosuperior quadrant ...
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