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Case Report: Smith-Magenis syndrome with bilateral high-grade vesicoureteral reflux, hypothyroidism, and seizure in infancy. [PDF]
Front PediatrCheng Y, Liu X, Yang L, Xu J.
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Neonatal Peripheral Hypotonia: Clinical and Electromyographic Characteristics
Child's Nervous System, 1993 Hypotonia is a common occurrence in pediatrics, especially in the neonatal period. The hypotonic neonate represents a diagnostic challenge for the general pediatrician because hypotonia may be caused by a lesion at any level in the neuraxis: (1) central nervous system (CNS), (2) peripheral nerves (PN), (3) neuromuscular junction, or (4) muscles ...
Enrico Parano +2 more
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Clinics in Perinatology, 2015
Neonatal hypotonia is a common problem in the neonatal intensive care unit. The genetic differential diagnosis is broad, encompassing primary muscular dystrophies, chromosome abnormalities, neuropathies, and inborn errors of metabolism. Recognition of hypotonia is relatively straightforward, but determining the cause can be challenging. It is important
Susan E Sparks
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Neonatal hypotonia is a common problem in the neonatal intensive care unit. The genetic differential diagnosis is broad, encompassing primary muscular dystrophies, chromosome abnormalities, neuropathies, and inborn errors of metabolism. Recognition of hypotonia is relatively straightforward, but determining the cause can be challenging. It is important
Susan E Sparks
exaly +6 more sources
Neonatal and Infantile Hypotonia
Handbook of Clinical Neurology / Edited By P J Vinken and G W Bruyn, 2023The underlying etiology of neonatal and infantile hypotonia can be divided into primary peripheral and central nervous system and acquired or genetic disorders. The approach to identifying the likeliest cause of hypotonia begins with a bedside assessment followed by a careful review of the birth history and early development and family pedigree and ...
David S Younger
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Neonatal hypotonia and neuromuscular conditions
, 2019 The differential diagnosis of neonatal hypotonia is a complex task, as in newborns hypotonia can be the presenting sign of different underlying causes, including peripheral and central nervous system involvement and genetic and metabolic diseases. This chapter describes how a combined approach, based on the combination of clinical signs and new genetic
Mercuri, Eugenio +2 more
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Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates
European Journal of Pediatrics, 2007 The objectives of our study were to determine the actual frequency of the different disorders causing neonatal hypotonia and to assess the reliability of the first physical examination as well as the contribution of the main standard diagnostic tests. One hundred and forty-four infants diagnosed with neonatal hypotonia between January 1st 1999 and June
Laugel, Vincent +8 more
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