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Select item 99445711.

Expanding the phenotype of PURA-related neurodevelopmental disorder to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies

Shivani Mishra, Katta Mohan Girisha, Anju Shukla

Clin Dysmorphol. Author manuscript; available in PMC 2023 Feb 22.

Published in final edited form as: Clin Dysmorphol. 2021 Jan; 30(1): 1–5. doi: 10.1097/MCD.0000000000000360

PMCID:: PMC9944571

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Select item 98450472.

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

Elizaveta Makarova, Nicole R. Legro, Ermal Aliu

Case Rep Genet. 2023; 2023: 1581876. Published online 2023 Jan 10. doi: 10.1155/2023/1581876

PMCID:: PMC9845047

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Select item 95875823.

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report

Hao-Yi Tan, Bin Wang, Yuan-Zong Song

BMC Pediatr. 2022; 22: 612. Published online 2022 Oct 22. doi: 10.1186/s12887-022-03672-w

PMCID:: PMC9587582

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Select item 88011414.

Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

Limor Kalfon, Meirav Baydany, Nadra Samra, Nawaf Heno, Zvi Segal, Ayelet Eran, Alon Yulevich, Yakov Fellig, Hanna Mandel, Tzipora C. Falik‐Zaccai

Mol Genet Genomic Med. 2022 Jan; 10(1): e1849. Published online 2021 Dec 31. doi: 10.1002/mgg3.1849

PMCID:: PMC8801141

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Select item 86154215.

Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly

Han Na Jang, Taeho Kim, Ah Young Jung, Beom Hee Lee, Mi-Sun Yum, Tae-Sung Ko

Medicine (Baltimore) 2021 Nov 24; 100(47): e27949. Published online 2021 Nov 24. doi: 10.1097/MD.0000000000027949

PMCID:: PMC8615421

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Select item 86099796.

Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism

Juan Cardenas, Jose Cardenas, Andrew Lee, Martha Brown, Fernando Galan, Jason Scimeme, Anatalia Labilloy

Cureus. 2021 Oct; 13(10): e19006. Published online 2021 Oct 24. doi: 10.7759/cureus.19006

PMCID:: PMC8609979

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Select item 84768807.

Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2

Yilun Tao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li

Front Genet. 2021; 12: 747422. Published online 2021 Sep 14. doi: 10.3389/fgene.2021.747422

PMCID:: PMC8476880

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Select item 78815558.

A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report

Rosaura Conti, Chiara Zanchi, Egidio Barbi

Ital J Pediatr. 2021; 47: 28. Published online 2021 Feb 12. doi: 10.1186/s13052-021-00984-y

PMCID:: PMC7881555

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Select item 70087609.

Neuromuscular Junction Disorders and Floppy Infant Syndrome: A Comprehensive Review

Jasndeep Kaler, Azhar Hussain, Sundip Patel, Shankar Majhi

Cureus. 2020 Feb; 12(2): e6922. Published online 2020 Feb 8. doi: 10.7759/cureus.6922

PMCID:: PMC7008760

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Select item 599213210.

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy

Chih-Chuan Wang, Xilma R. Ortiz-González, Sabrina W. Yum, Sara M. Gill, Amy White, Erin Kelter, Laurie H. Seaver, Sansan Lee, Graham Wiley, Patrick M. Gaffney, Klaas J. Wierenga, Matthew N. Rasband

Am J Hum Genet. 2018 Jun 7; 102(6): 1158–1168. Published online 2018 May 31. doi: 10.1016/j.ajhg.2018.04.012

PMCID:: PMC5992132

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Select item 515977511.

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

Mathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, Madeleine Joubert, Jean-Michel Liet, Laure Simon, Marie Vincent, Sébastien Küry, Pierre Boisseau, Sébastien Schmitt, Sandra Mercier, Claire Bénéteau, Catherine Larrose, Marianne Coste, Xénia Latypova, Yann Péréon, Jean-Marie Mussini, Stéphane Bézieau, Bertrand Isidor

Eur J Hum Genet. 2017 Jan; 25(1): 150–152. Published online 2016 Oct 26. doi: 10.1038/ejhg.2016.142

PMCID:: PMC5159775

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Select item 400107312.

Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism

Uner Tan

Front Neurosci. 2014; 8: 84. Published online 2014 Apr 22. doi: 10.3389/fnins.2014.00084

PMCID:: PMC4001073

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Select item 361592913.

Infantile hypotonia with failure to thrive

Mohamed Nagiub, Karen Alton, Premchand Anne

Am J Case Rep. 2012; 13: 214–217. Published online 2012 Sep 5. doi: 10.12659/AJCR.883367

PMCID:: PMC3615929

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Select item 154611714.

Organic aciduria. Treatable cause of floppy infant syndrome.

B R Keeton

Arch Dis Child. 1976 Aug; 51(8): 636–638. doi: 10.1136/adc.51.8.636

PMCID:: PMC1546117

Summary Page Browse PDF–636K Cite

Select item 1028877315.

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP

Jarosław Dulski, Josiane Souza, Mara Lúcia Santos, Zbigniew K. Wszolek

Orphanet J Rare Dis. 2023; 18: 160. Published online 2023 Jun 22. doi: 10.1186/s13023-023-02772-9

PMCID:: PMC10288773

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Select item 954849416.

Prader-Willi Syndrome, Deletion Subtypes and Magnesium: Potential Impact on Clinical Findings

Merlin G. Butler, Neil Cowen, Anish Bhatnagar

Am J Med Genet A. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: Am J Med Genet A. 2022 Nov; 188(11): 3278–3286. Published online 2022 Aug 6. doi: 10.1002/ajmg.a.62928

PMCID:: PMC9548494

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Select item 929114517.

Diagnostic yield of genetic testing in 324 infants with hypotonia

Sonal Sharma, Elena Repnikova, Janelle R. Noel‐MacDonnell, Jean‐Baptiste LePichon

Clin Genet. 2021 Dec; 100(6): 752–757. Published online 2021 Sep 16. doi: 10.1111/cge.14057

PMCID:: PMC9291145

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Select item 919240418.

Assessing floppy infants: a new module

Costanza Cutrona, Elisa Pede, Roberto De Sanctis, Giorgia Coratti, Eloisa Tiberi, Rita Luciano, Maria Carmela Pera, Chiara Velli, Anna Capasso, Giovanni Vento, Domenico M. Romeo, Marika Pane, Eugenio Mercuri

Eur J Pediatr. 2022; 181(7): 2771–2778. Published online 2022 May 4. doi: 10.1007/s00431-022-04476-x

PMCID:: PMC9192404

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Select item 914208119.

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene

Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Magdalena Klaniewska, Zuzanna Gamrot, Ewa Gronska, Rafal Ploski, Robert Smigiel

Genes (Basel) 2022 May; 13(5): 725. Published online 2022 Apr 21. doi: 10.3390/genes13050725

PMCID:: PMC9142081

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Select item 895890620.

Ethylmalonic encephalopathy masquerading as meningococcemia

Ari Horton, Kai Mun Hong, Dinusha Pandithan, Meredith Allen, Caroline Killick, Stacy Goergen, Amanda Springer, Dean Phelan, Melanie Marty, Rebecca Halligan, Joy Lee, James Pitt, Belinda Chong, John Christodoulou, Sebastian Lunke, Zornitza Stark, Michael Fahey

Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006193. doi: 10.1101/mcs.a006193