A Case of Consanguinity
A newborn of unknown gestational age and unknown chronological age was admitted to the neonatal intensive care unit after presenting to the emergency department for evaluation and concern for neglect. The infant was found at home by authorities with no adult caretaker. As part of routine newborn car...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2022-11-01
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| Series: | Global Pediatric Health |
| Online Access: | https://doi.org/10.1177/2333794X221135965 |
| _version_ | 1797984149400715264 |
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| author | Carla Brown MD Paige Jones-Brooks BS Gwenevere White MD Zackary Shearer MD Megan Baber DO |
| author_facet | Carla Brown MD Paige Jones-Brooks BS Gwenevere White MD Zackary Shearer MD Megan Baber DO |
| author_sort | Carla Brown MD |
| collection | DOAJ |
| description | A newborn of unknown gestational age and unknown chronological age was admitted to the neonatal intensive care unit after presenting to the emergency department for evaluation and concern for neglect. The infant was found at home by authorities with no adult caretaker. As part of routine newborn care, this infant was noted to have an abnormal newborn metabolic screen. Subsequent genetic testing confirmed an inborn error of metabolism. When family and social history became available, it was determined that the mother and putative father were genetically related. This case report discusses newborn metabolic screening and inborn errors of metabolism and their relationship to consanguinity. |
| first_indexed | 2024-04-11T06:58:03Z |
| format | Article |
| id | doaj.art-9fe3ce02b42e42c9828462d2fbc13e16 |
| institution | Directory Open Access Journal |
| issn | 2333-794X |
| language | English |
| last_indexed | 2024-04-11T06:58:03Z |
| publishDate | 2022-11-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Global Pediatric Health |
| spelling | doaj.art-9fe3ce02b42e42c9828462d2fbc13e162022-12-22T04:38:57ZengSAGE PublishingGlobal Pediatric Health2333-794X2022-11-01910.1177/2333794X221135965A Case of ConsanguinityCarla Brown MD0Paige Jones-Brooks BS1Gwenevere White MD2Zackary Shearer MD3Megan Baber DO4University of Arkansas for Medical Sciences and Arkansas Children’s Hospital, Little Rock, AR, USAUniversity of Arkansas for Medical Sciences, Little Rock, AR, USAUniversity of Arkansas for Medical Sciences and Arkansas Children’s Hospital, Little Rock, AR, USAUniversity of Arkansas for Medical Sciences and Arkansas Children’s Hospital, Little Rock, AR, USAUniversity of Arkansas for Medical Sciences and Arkansas Children’s Hospital, Little Rock, AR, USAA newborn of unknown gestational age and unknown chronological age was admitted to the neonatal intensive care unit after presenting to the emergency department for evaluation and concern for neglect. The infant was found at home by authorities with no adult caretaker. As part of routine newborn care, this infant was noted to have an abnormal newborn metabolic screen. Subsequent genetic testing confirmed an inborn error of metabolism. When family and social history became available, it was determined that the mother and putative father were genetically related. This case report discusses newborn metabolic screening and inborn errors of metabolism and their relationship to consanguinity.https://doi.org/10.1177/2333794X221135965 |
| spellingShingle | Carla Brown MD Paige Jones-Brooks BS Gwenevere White MD Zackary Shearer MD Megan Baber DO A Case of Consanguinity Global Pediatric Health |
| title | A Case of Consanguinity |
| title_full | A Case of Consanguinity |
| title_fullStr | A Case of Consanguinity |
| title_full_unstemmed | A Case of Consanguinity |
| title_short | A Case of Consanguinity |
| title_sort | case of consanguinity |
| url | https://doi.org/10.1177/2333794X221135965 |
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