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Article: Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters
Title | Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters |
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Authors | |
Keywords | Congenital disorders Genetics Neonatal and paediatric intensive care Paediatrics Pregnancy |
Issue Date | 4-Mar-2024 |
Publisher | BMJ Publishing Group |
Citation | BMJ Case Reports, 2024, v. 17, n. 3 How to Cite? |
Abstract | A newborn baby born at 34 weeks and 5 days gestation was admitted for prematurity, dysmorphic features and congenital heart defects. Antenatal scan at 21 weeks showed a large-for-gestational-age foetus with a large abdominal circumference and liver, ventricular septal defect, right prominent renal pelvis and echogenic bowel. Antenatal genetic tests for overgrowth syndromes were negative. The mother had early onset pre-eclampsia. After birth, an overgrowth syndrome was still suspected despite the baby having normal birth parameters. Raw data of the trio whole exome sequencing from the amniocentesis sample were manually inspected. Hemizygous exon 7 deletion in the GPC3 gene was found, and a postnatal diagnosis of Simpson-Golabi-Behmel syndrome, a rare overgrowth syndrome, was made. This case report discusses the significance of antenatal findings, an atypical presentation of a rare syndrome and the obstacles of diagnostic genetic testing. |
Persistent Identifier | http://hdl.handle.net/10722/344230 |
ISSN | 2023 Impact Factor: 0.6 2023 SCImago Journal Rankings: 0.235 |
DC Field | Value | Language |
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dc.contributor.author | Chung, Brian Hon Yin | - |
dc.contributor.author | Yeow, Shu-ling Sophie | - |
dc.contributor.author | Chan, Joshua Chun Ki | - |
dc.contributor.author | Lee, Mianne | - |
dc.date.accessioned | 2024-07-16T03:41:49Z | - |
dc.date.available | 2024-07-16T03:41:49Z | - |
dc.date.issued | 2024-03-04 | - |
dc.identifier.citation | BMJ Case Reports, 2024, v. 17, n. 3 | - |
dc.identifier.issn | 1757-790X | - |
dc.identifier.uri | http://hdl.handle.net/10722/344230 | - |
dc.description.abstract | <p>A newborn baby born at 34 weeks and 5 days gestation was admitted for prematurity, dysmorphic features and congenital heart defects. Antenatal scan at 21 weeks showed a large-for-gestational-age foetus with a large abdominal circumference and liver, ventricular septal defect, right prominent renal pelvis and echogenic bowel. Antenatal genetic tests for overgrowth syndromes were negative. The mother had early onset pre-eclampsia. After birth, an overgrowth syndrome was still suspected despite the baby having normal birth parameters. Raw data of the trio whole exome sequencing from the amniocentesis sample were manually inspected. Hemizygous exon 7 deletion in the GPC3 gene was found, and a postnatal diagnosis of Simpson-Golabi-Behmel syndrome, a rare overgrowth syndrome, was made. This case report discusses the significance of antenatal findings, an atypical presentation of a rare syndrome and the obstacles of diagnostic genetic testing.</p> | - |
dc.language | eng | - |
dc.publisher | BMJ Publishing Group | - |
dc.relation.ispartof | BMJ Case Reports | - |
dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
dc.subject | Congenital disorders | - |
dc.subject | Genetics | - |
dc.subject | Neonatal and paediatric intensive care | - |
dc.subject | Paediatrics | - |
dc.subject | Pregnancy | - |
dc.title | Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters | - |
dc.type | Article | - |
dc.identifier.doi | 10.1136/bcr-2021-247864 | - |
dc.identifier.scopus | eid_2-s2.0-85187164498 | - |
dc.identifier.volume | 17 | - |
dc.identifier.issue | 3 | - |
dc.identifier.eissn | 1757-790X | - |
dc.identifier.issnl | 1757-790X | - |