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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1973 1
1975 1
1978 1
1979 3
1983 1
1984 2
1986 1
1987 2
1990 2
1991 2
1992 1
1993 2
1994 1
1995 6
1996 1
1997 1
1998 1
2000 5
2001 4
2002 4
2003 3
2004 4
2005 5
2006 6
2007 6
2008 5
2009 3
2010 5
2011 4
2012 3
2013 6
2014 4
2015 2
2016 3
2017 2
2018 5
2019 8
2020 8
2021 7
2022 3
2023 4
2024 1

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130 results

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Page 1
Variability in Cerebral Palsy Diagnosis.
Aravamuthan BR, Fehlings D, Shetty S, Fahey M, Gilbert L, Tilton A, Kruer MC. Aravamuthan BR, et al. Pediatrics. 2021 Feb;147(2):e2020010066. doi: 10.1542/peds.2020-010066. Epub 2021 Jan 5. Pediatrics. 2021. PMID: 33402528 Free PMC article.
CONCLUSIONS: There is practice variability in whether a child with a nonprogressive motor disability due to a genetic etiology or generalized hypotonia will be diagnosed with CP. This variability occurred despite anchoring questions with the 2007 consensus definitio …
CONCLUSIONS: There is practice variability in whether a child with a nonprogressive motor disability due to a genetic etiology or general …
Peroxisomal disorders with infantile seizures.
Liang JS, Lu JF. Liang JS, et al. Brain Dev. 2011 Oct;33(9):777-82. doi: 10.1016/j.braindev.2011.02.004. Epub 2011 Mar 11. Brain Dev. 2011. PMID: 21397417 Review.
Infants with PDs are usually presented with developmental delay, visual and hearing impairment. Generalized hypotonia is present in severe cases. Epileptic seizures are also a common characteristic of patients with certain PDs. ...
Infants with PDs are usually presented with developmental delay, visual and hearing impairment. Generalized hypotonia is prese …
Walker-Warburg syndrome.
Vajsar J, Schachter H. Vajsar J, et al. Orphanet J Rare Dis. 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. Orphanet J Rare Dis. 2006. PMID: 16887026 Free PMC article. Review.
It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years. WWS presents at birth with generalized hypotonia, muscle weakness, developmental delay with mental retardation and occasional seizures. ...
It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years. WWS presents at birth wi …
A floppy baby.
Hebert K, Haritos D, Kannikeswaran N. Hebert K, et al. Pediatr Emerg Care. 2015 Jun;31(6):419-21. doi: 10.1097/PEC.0000000000000458. Pediatr Emerg Care. 2015. PMID: 26035495
We present a case of a 9-month-old infant who presented to the emergency department with generalized hypotonia and respiratory distress and was found to have Pompe disease. ...
We present a case of a 9-month-old infant who presented to the emergency department with generalized hypotonia and respiratory …
Kagami-Ogata syndrome: a case report.
Suriapperuma T, Randeny S, Mettananda S. Suriapperuma T, et al. J Med Case Rep. 2022 Jul 22;16(1):284. doi: 10.1186/s13256-022-03512-6. J Med Case Rep. 2022. PMID: 35864517 Free PMC article.
He was ventilator-dependent for 3 weeks; however, he was successfully weaned off the ventilator on day 22 after several failed extubation attempts. At 3-month follow-up, he had generalized hypotonia and mild global developmental delay. His developmental age correspo …
He was ventilator-dependent for 3 weeks; however, he was successfully weaned off the ventilator on day 22 after several failed extubation at …
Congenital Hypotonia in Toddlerhood.
Steiner N, Torres A, Reddy A, Augustyn M. Steiner N, et al. J Dev Behav Pediatr. 2017 Sep;38(7):556-557. doi: 10.1097/DBP.0000000000000497. J Dev Behav Pediatr. 2017. PMID: 28816914
His height, head circumference, and weight are at the 50th percentile. His physical examination is notable for generalized hypotonia, with intact upper and lower deep tendon reflexes. ...
His height, head circumference, and weight are at the 50th percentile. His physical examination is notable for generalized hypoton …
X-linked centronuclear myopathy.
Fan HC, Lee CM, Harn HJ, Cheng SN, Yuh YS. Fan HC, et al. Am J Perinatol. 2003 May;20(4):173-9. doi: 10.1055/s-2003-40603. Am J Perinatol. 2003. PMID: 12874727
This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, and respiratory distress at birth. ...
This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, an …
Clinical features of spinal muscular atrophy (SMA) type 2.
Cancès C, Richelme C, Barnerias C, Espil C. Cancès C, et al. Arch Pediatr. 2020 Dec;27(7S):7S18-7S22. doi: 10.1016/S0929-693X(20)30272-4. Arch Pediatr. 2020. PMID: 33357592 Review.
The early signs are muscle weakness, mostly affecting the lower limbs, generalized hypotonia and areflexia. The consequences of motor neuron degeneration are functional and orthopaedic, respiratory, nutritional, socio-professional, and psychological. ...
The early signs are muscle weakness, mostly affecting the lower limbs, generalized hypotonia and areflexia. The consequences o …
22q13 deletion syndrome.
Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP. Phelan MC, et al. Am J Med Genet. 2001 Jun 15;101(2):91-9. doi: 10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c. Am J Med Genet. 2001. PMID: 11391650
The features most frequently associated with this deletion are global developmental delay, generalized hypotonia, absent or severely delayed speech, and normal to advanced growth. ...
The features most frequently associated with this deletion are global developmental delay, generalized hypotonia, absent or se …
130 results