A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype
Microdeletion of the short arm of chromosome 18 is one of the most common chromosome deletion syndromes. Its estimated frequency is 1 in 50,000 live-born infants, with female prevalence over males. Around 150 cases have been described till now. The reported abnormalities include growth deficiency, h...
Saved in:
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-01-01
|
| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2023/2275582 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832559163816804352 |
|---|---|
| author | Deepa Banker Bhavdeep Mungala Zankhana Parekh Shachi Ganatra Vimal Maheshwari Yashica Raj Utsav Patel Digant Patel Kishan Chamar Vasu Solanki |
| author_facet | Deepa Banker Bhavdeep Mungala Zankhana Parekh Shachi Ganatra Vimal Maheshwari Yashica Raj Utsav Patel Digant Patel Kishan Chamar Vasu Solanki |
| author_sort | Deepa Banker |
| collection | DOAJ |
| description | Microdeletion of the short arm of chromosome 18 is one of the most common chromosome deletion syndromes. Its estimated frequency is 1 in 50,000 live-born infants, with female prevalence over males. Around 150 cases have been described till now. The reported abnormalities include growth deficiency, hypotonia, microcephaly, dysmorphic facial features such as ptosis, epicanthal folds, hypertelorism and micrognathia, and relatively small hands and feet. Our patient was a full-term low birth weight (2150 gm) female newborn, showing cleft upper lip and palate (hard and soft palate), bilateral congenital Talipes Equinovarus with rocker bottom foot, microcephaly, atrial septal defect. She was initially conservatively managed with gavage feeding, then shifted into paladai feeding of expressed breast milk. A multidisciplinary approach was adopted due to various malformations and for the potential occurring complications. To our knowledge, this is the first case diagnosed during the neonatal period. |
| format | Article |
| id | doaj-art-ae87fdc73073494e906ff0ba5b57ae31 |
| institution | Kabale University |
| issn | 2090-6811 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-ae87fdc73073494e906ff0ba5b57ae312025-02-03T01:30:44ZengWileyCase Reports in Pediatrics2090-68112023-01-01202310.1155/2023/2275582A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like PhenotypeDeepa Banker0Bhavdeep Mungala1Zankhana Parekh2Shachi Ganatra3Vimal Maheshwari4Yashica Raj5Utsav Patel6Digant Patel7Kishan Chamar8Vasu Solanki9Department of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsMicrodeletion of the short arm of chromosome 18 is one of the most common chromosome deletion syndromes. Its estimated frequency is 1 in 50,000 live-born infants, with female prevalence over males. Around 150 cases have been described till now. The reported abnormalities include growth deficiency, hypotonia, microcephaly, dysmorphic facial features such as ptosis, epicanthal folds, hypertelorism and micrognathia, and relatively small hands and feet. Our patient was a full-term low birth weight (2150 gm) female newborn, showing cleft upper lip and palate (hard and soft palate), bilateral congenital Talipes Equinovarus with rocker bottom foot, microcephaly, atrial septal defect. She was initially conservatively managed with gavage feeding, then shifted into paladai feeding of expressed breast milk. A multidisciplinary approach was adopted due to various malformations and for the potential occurring complications. To our knowledge, this is the first case diagnosed during the neonatal period.http://dx.doi.org/10.1155/2023/2275582 |
| spellingShingle | Deepa Banker Bhavdeep Mungala Zankhana Parekh Shachi Ganatra Vimal Maheshwari Yashica Raj Utsav Patel Digant Patel Kishan Chamar Vasu Solanki A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype Case Reports in Pediatrics |
| title | A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype |
| title_full | A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype |
| title_fullStr | A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype |
| title_full_unstemmed | A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype |
| title_short | A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype |
| title_sort | neonatal patient diagnosed with chromosome 18p 11 1 microdeletion syndrome presented with trisomy 18like phenotype |
| url | http://dx.doi.org/10.1155/2023/2275582 |
| work_keys_str_mv | AT deepabanker aneonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT bhavdeepmungala aneonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT zankhanaparekh aneonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT shachiganatra aneonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT vimalmaheshwari aneonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT yashicaraj aneonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT utsavpatel aneonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT digantpatel aneonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT kishanchamar aneonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT vasusolanki aneonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT deepabanker neonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT bhavdeepmungala neonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT zankhanaparekh neonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT shachiganatra neonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT vimalmaheshwari neonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT yashicaraj neonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT utsavpatel neonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT digantpatel neonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT kishanchamar neonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype AT vasusolanki neonatalpatientdiagnosedwithchromosome18p111microdeletionsyndromepresentedwithtrisomy18likephenotype |