• Corpus ID: 40058224

Differential Diagnosis of Neuromuscular Disorders Presenting in Newborns

@inproceedings{Peredo2009DifferentialDO,
  title={Differential Diagnosis of Neuromuscular Disorders Presenting in Newborns},
  author={Dawn E. Peredo and Mark C. Hannibal},
  year={2009}
}
pedclerk.bsd.uchicago.edu

References

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TLDR
In the evaluation and diagnosis of the hypotonic infant, careful attention should be paid to the history and clinical examination as one is likely to get more help from these in arriving at a diagnosis than from many of the more sophisticated and specialized investigations.
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One hundred and thirty‐three ‘floppy infants’ who were referred for neurological consultation between the ages of 6 months and 2 1/2 years, are discussed; 112 had follow‐up examinations. The mothers'…
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TLDR
This study determined the diagnostic profile of newborns with hypotonia and analyzed the usefulness of different procedures in the diagnostic process to assist the neonatologist when deciding the diagnostic approach to floppy newborns.
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The list of possible diagnoses for floppiness in infancy is extensive, with potentially hundreds of rare diseases. Nonetheless, most floppy infants have distinctive features in the history, the…
The Floppy Infant: Retrospective Analysis of Clinical Experience (1990—2000) in a Tertiary Care Facility
TLDR
Systematic evaluation of a floppy infant followed by careful selection of investigations (karyotype, DNA-based diagnostic tests, and cranial imaging) can maximize diagnostic yield.
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