Floppy infant syndrome

Known as: floppy baby, hypotonia congenital, infant floppy 
A syndrome of generalized poor muscle tone and muscle weakness presenting in a newborn infant.
National Institutes of Health

Related topics

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10 relations
Benign congenital hypotoniaLubs X-linked mental retardation syndromeMental Retardation, Autosomal Dominant 1Myopathies, Nemaline
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Broader (1)

Neuromuscular Diseases

Papers overview

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Review
2016
Review
2016
FLOPPY INFANT SYNDROME: OVERVIEW
Floppy infants exhibit poor control of movement, delayed motor skills, and hypotonic motor movement patterns. Weak infants always… (More)
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2011
2011
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.
We describe an autosomal recessive condition characterized with cerebral vasculopathy and early onset of stroke in 14 individuals… (More)
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Highly Cited
2010
Highly Cited
2010
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome
Prader–Willi syndrome (PWS) is a neurobehavioral disorder manifested by infantile hypotonia and feeding difficulties in infancy… (More)
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Highly Cited
2005
Highly Cited
2005
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
J oubert syndrome (JS) is an autosomal recessive disorder presenting with congenital hypotonia evolving into ataxia… (More)
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Review
2004
Review
2004
Floppy infant syndrome.
Floppiness/hypotonia is a common neurologic symptom in infancy. A variety of neuromuscular disorders and central nervous system… (More)
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2004
2004
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.
W olf-Hirschhorn syndrome is a multiple malformation syndrome with distinct abnormal craniofacial features, prenatal onset growth… (More)
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Highly Cited
2003
Highly Cited
2003
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.
In an attempt to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map its specific clinical manifestations… (More)
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Highly Cited
2000
Highly Cited
2000
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive… (More)
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Highly Cited
2000
Highly Cited
2000
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity of 4p16.3 was detected by… (More)
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1976
1976
Organic aciduria. Treatable cause of floppy infant syndrome.
A floppy infant is described who has an inborn error of organic acid metabolism due to defective activity of the enzyme beta… (More)
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