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Severe neonatal hypotonia improving with age

MedGen UID:
358080
Concept ID:
C1867861
Finding

Professional guidelines

PubMed

Karacan Küçükali G, Keskin M, Aycan Z, Savaş-Erdeve Ş, Çetinkaya S
Eur J Med Genet 2023 Oct;66(10):104828. Epub 2023 Sep 4 doi: 10.1016/j.ejmg.2023.104828. PMID: 37673300
Yang-Li D, Fei-Hong L, Hui-Wen Z, Ming-Sheng M, Xiao-Ping L, Li L, Yi W, Qing Z, Yong-Hui J, Chao-Chun Z; PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society; Zhejiang Expert Group for PWS
Orphanet J Rare Dis 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z. PMID: 35698200Free PMC Article
Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E
Neuropediatrics 1996 Jun;27(3):115-23. doi: 10.1055/s-2007-973761. PMID: 8837070

Recent clinical studies

Etiology

Yang-Li D, Fei-Hong L, Hui-Wen Z, Ming-Sheng M, Xiao-Ping L, Li L, Yi W, Qing Z, Yong-Hui J, Chao-Chun Z; PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society; Zhejiang Expert Group for PWS
Orphanet J Rare Dis 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z. PMID: 35698200Free PMC Article
Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K
Cochrane Database Syst Rev 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. PMID: 29763510Free PMC Article
Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL
Neurology 2017 May 16;88(20):1919-1924. Epub 2017 Apr 14 doi: 10.1212/WNL.0000000000003936. PMID: 28411234Free PMC Article
Ronchi A, Doern C, Brock E, Pugni L, Sánchez PJ
J Pediatr 2014 Mar;164(3):529-35.e1-4. Epub 2013 Dec 18 doi: 10.1016/j.jpeds.2013.11.009. PMID: 24359940
Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ
J Med Genet 1996 Feb;33(2):107-12. doi: 10.1136/jmg.33.2.107. PMID: 8929945Free PMC Article

Diagnosis

Yang-Li D, Fei-Hong L, Hui-Wen Z, Ming-Sheng M, Xiao-Ping L, Li L, Yi W, Qing Z, Yong-Hui J, Chao-Chun Z; PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society; Zhejiang Expert Group for PWS
Orphanet J Rare Dis 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z. PMID: 35698200Free PMC Article
Cancès C, Richelme C, Barnerias C, Espil C
Arch Pediatr 2020 Dec;27(7S):7S18-7S22. doi: 10.1016/S0929-693X(20)30272-4. PMID: 33357592
Vieira D, Florindo C, Tavares de Almeida I, Macário MC
BMJ Case Rep 2020 Mar 10;13(3) doi: 10.1136/bcr-2019-232241. PMID: 32161077Free PMC Article
Stokes VJ, Nielsen MF, Hannan FM, Thakker RV
J Bone Miner Res 2017 Nov;32(11):2157-2170. Epub 2017 Nov 2 doi: 10.1002/jbmr.3296. PMID: 28914984Free PMC Article
Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL
Neurology 2017 May 16;88(20):1919-1924. Epub 2017 Apr 14 doi: 10.1212/WNL.0000000000003936. PMID: 28411234Free PMC Article

Therapy

Vieira D, Florindo C, Tavares de Almeida I, Macário MC
BMJ Case Rep 2020 Mar 10;13(3) doi: 10.1136/bcr-2019-232241. PMID: 32161077Free PMC Article
Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K
Cochrane Database Syst Rev 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. PMID: 29763510Free PMC Article
Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL
Neurology 2017 May 16;88(20):1919-1924. Epub 2017 Apr 14 doi: 10.1212/WNL.0000000000003936. PMID: 28411234Free PMC Article
Ronchi A, Doern C, Brock E, Pugni L, Sánchez PJ
J Pediatr 2014 Mar;164(3):529-35.e1-4. Epub 2013 Dec 18 doi: 10.1016/j.jpeds.2013.11.009. PMID: 24359940
Bridges N
Arch Dis Child 2014 Feb;99(2):166-70. Epub 2013 Oct 25 doi: 10.1136/archdischild-2013-303760. PMID: 24162007

Prognosis

Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL
Neurology 2017 May 16;88(20):1919-1924. Epub 2017 Apr 14 doi: 10.1212/WNL.0000000000003936. PMID: 28411234Free PMC Article
Reus L, van Vlimmeren LA, Staal JB, Janssen AJ, Otten BJ, Pelzer BJ, Nijhuis-van der Sanden MW
Res Dev Disabil 2013 Apr;34(4):1160-9. Epub 2013 Feb 1 doi: 10.1016/j.ridd.2012.12.015. PMID: 23380578
Nucci A, Queiroz LS, Zambelli HJ, Martins Filho J
Arq Neuropsiquiatr 2004 Dec;62(4):935-9. Epub 2004 Dec 15 doi: 10.1590/s0004-282x2004000600002. PMID: 15608948
Clarke NF, North KN
J Neuropathol Exp Neurol 2003 Oct;62(10):977-89. doi: 10.1093/jnen/62.10.977. PMID: 14575234
Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ
J Med Genet 1996 Feb;33(2):107-12. doi: 10.1136/jmg.33.2.107. PMID: 8929945Free PMC Article

Clinical prediction guides

Karacan Küçükali G, Keskin M, Aycan Z, Savaş-Erdeve Ş, Çetinkaya S
Eur J Med Genet 2023 Oct;66(10):104828. Epub 2023 Sep 4 doi: 10.1016/j.ejmg.2023.104828. PMID: 37673300
Dötsch L, Matesevac L, Strong TV, Schaaf CP
Mol Genet Genomic Med 2023 Dec;11(12):e2262. Epub 2023 Aug 3 doi: 10.1002/mgg3.2262. PMID: 37533374Free PMC Article
Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K
Cochrane Database Syst Rev 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. PMID: 29763510Free PMC Article
Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, Burlina AB, Cerone R, Garcia P, Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Gruenert SC, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C
J Inherit Metab Dis 2014 Sep;37(5):831-40. Epub 2014 Mar 6 doi: 10.1007/s10545-014-9687-6. PMID: 24599607
Paradies G, Zullino F, Orofino A, Leggio S
Ann Ital Chir 2013 May-Jun;84(3):333-46. PMID: 23160138

Recent systematic reviews

Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K
Cochrane Database Syst Rev 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. PMID: 29763510Free PMC Article

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