Development Delay in a Child with Microcephaly and Birth Asphyxia Article Swipe
Jasbir Singh
,
Poonam Dalal
,
KamalNain Rattan
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.4103/jpn.jpn_126_20
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.4103/jpn.jpn_126_20
We describe a case of a 2-year-old female child who presented as emergency with acute gastroenteritis and severe dehydration. In this patient, there was a history of severe birth asphyxia, and the developmental milestones were delayed. The child was managed as hypotonic cerebral palsy elsewhere with antiepileptic drug and nutritional supplements. However, persistent abnormal pattern of breathing after adequate hydration and noncontributory metabolic profile raised the suspicion of alternate etiology. Later, the diagnosis of Joubert syndrome was established on contrast-enhanced magnetic resonance imaging of brain with findings of "molar tooth sign" appearance along with vermian hypoplasia. We present this case to alert the clinicians to explore all the differential diagnoses carefully whenever a child presents with the developmental delay associated with multisystem involvement.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.4103/jpn.jpn_126_20
- OA Status
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- References
- 17
- Related Works
- 10
- OpenAlex ID
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All OpenAlex metadata
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https://openalex.org/W4312066817Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.4103/jpn.jpn_126_20Digital Object Identifier
- Title
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Development Delay in a Child with Microcephaly and Birth AsphyxiaWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
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2021Year of publication
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2021-10-01Full publication date if available
- Authors
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Jasbir Singh, Poonam Dalal, KamalNain RattanList of authors in order
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https://doi.org/10.4103/jpn.jpn_126_20Publisher landing page
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YesWhether a free full text is available
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greenOpen access status per OpenAlex
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https://www.ncbi.nlm.nih.gov/pmc/articles/9757521Direct OA link when available
- Concepts
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Medicine, Pediatrics, Asphyxia, Cerebral palsy, Etiology, Microcephaly, Magnetic resonance imaging, Differential diagnosis, Hypoplasia, Surgery, Physical medicine and rehabilitation, Pathology, RadiologyTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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17Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.delay | 118 |
| abstract_inverted_index.palsy | 43 |
| abstract_inverted_index.sign" | 90 |
| abstract_inverted_index.there | 22 |
| abstract_inverted_index.tooth | 89 |
| abstract_inverted_index."molar | 88 |
| abstract_inverted_index.Later, | 70 |
| abstract_inverted_index.female | 7 |
| abstract_inverted_index.raised | 64 |
| abstract_inverted_index.severe | 17, 27 |
| abstract_inverted_index.Joubert | 74 |
| abstract_inverted_index.explore | 105 |
| abstract_inverted_index.history | 25 |
| abstract_inverted_index.imaging | 82 |
| abstract_inverted_index.managed | 39 |
| abstract_inverted_index.pattern | 54 |
| abstract_inverted_index.present | 97 |
| abstract_inverted_index.profile | 63 |
| abstract_inverted_index.vermian | 94 |
| abstract_inverted_index.However, | 51 |
| abstract_inverted_index.abnormal | 53 |
| abstract_inverted_index.adequate | 58 |
| abstract_inverted_index.cerebral | 42 |
| abstract_inverted_index.delayed. | 35 |
| abstract_inverted_index.describe | 1 |
| abstract_inverted_index.findings | 86 |
| abstract_inverted_index.magnetic | 80 |
| abstract_inverted_index.patient, | 21 |
| abstract_inverted_index.presents | 114 |
| abstract_inverted_index.syndrome | 75 |
| abstract_inverted_index.whenever | 111 |
| abstract_inverted_index.alternate | 68 |
| abstract_inverted_index.asphyxia, | 29 |
| abstract_inverted_index.breathing | 56 |
| abstract_inverted_index.carefully | 110 |
| abstract_inverted_index.diagnoses | 109 |
| abstract_inverted_index.diagnosis | 72 |
| abstract_inverted_index.elsewhere | 44 |
| abstract_inverted_index.emergency | 12 |
| abstract_inverted_index.etiology. | 69 |
| abstract_inverted_index.hydration | 59 |
| abstract_inverted_index.hypotonic | 41 |
| abstract_inverted_index.metabolic | 62 |
| abstract_inverted_index.presented | 10 |
| abstract_inverted_index.resonance | 81 |
| abstract_inverted_index.suspicion | 66 |
| abstract_inverted_index.2-year-old | 6 |
| abstract_inverted_index.appearance | 91 |
| abstract_inverted_index.associated | 119 |
| abstract_inverted_index.clinicians | 103 |
| abstract_inverted_index.milestones | 33 |
| abstract_inverted_index.persistent | 52 |
| abstract_inverted_index.established | 77 |
| abstract_inverted_index.hypoplasia. | 95 |
| abstract_inverted_index.multisystem | 121 |
| abstract_inverted_index.nutritional | 49 |
| abstract_inverted_index.dehydration. | 18 |
| abstract_inverted_index.differential | 108 |
| abstract_inverted_index.involvement. | 122 |
| abstract_inverted_index.supplements. | 50 |
| abstract_inverted_index.antiepileptic | 46 |
| abstract_inverted_index.developmental | 32, 117 |
| abstract_inverted_index.gastroenteritis | 15 |
| abstract_inverted_index.noncontributory | 61 |
| abstract_inverted_index.contrast-enhanced | 79 |
| cited_by_percentile_year | |
| countries_distinct_count | 1 |
| institutions_distinct_count | 3 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/2 |
| sustainable_development_goals[0].score | 0.7099999785423279 |
| sustainable_development_goals[0].display_name | Zero hunger |
| citation_normalized_percentile.value | 0.23519123 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |