{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,15]],"date-time":"2026-03-15T16:39:26Z","timestamp":1773592766328,"version":"3.50.1"},"reference-count":11,"publisher":"BMJ","issue":"3","funder":[{"name":"Society for the Relief of Disabled Children","award":["AR160059"],"award-info":[{"award-number":["AR160059"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,2,16]]},"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:p>A newborn baby born at 34 weeks and 5\u2009days 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.<\/jats:p>","DOI":"10.1136\/bcr-2021-247864","type":"journal-article","created":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T00:00:34Z","timestamp":1709596834000},"page":"e247864","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1381-5391","authenticated-orcid":false,"given":"Brian Hon Yin","family":"Chung","sequence":"first","affiliation":[{"name":"Paediatrics & Adolescent Medicine, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu-ling Sophie","family":"Yeow","sequence":"additional","affiliation":[{"name":"Hong Kong Children's Hospital, Hong Kong, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshua Chun Ki","family":"Chan","sequence":"additional","affiliation":[{"name":"Hong Kong Children's Hospital, Hong Kong, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mianne","family":"Lee","sequence":"additional","affiliation":[{"name":"The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,3,4]]},"reference":[{"key":"2025082712072682000_17.3.e247864.1","unstructured":"Sajorda BJ , Gonzalez-Gandolfi CX , Hathaway ER , et al . Simpson-Golabi-Behmel syndrome type 1. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews(\u00ae). Seattle (WA): University of Washington, Seattle, 1993."},{"key":"2025082712072682000_17.3.e247864.2","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-014-0138-0","article-title":"Simpson-Golabi-Behmel syndrome types I and II","volume":"9","author":"Tenorio","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"2025082712072682000_17.3.e247864.3","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1002\/ajmg.c.31738","article-title":"The phenotype of sotos syndrome in adulthood: a review of 44 individuals","volume":"181","author":"Foster","year":"2019","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025082712072682000_17.3.e247864.4","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1097\/MOP.0b013e3283558995","article-title":"Overgrowth syndromes","volume":"24","author":"Neylon","year":"2012","journal-title":"Curr Opin Pediatr"},{"key":"2025082712072682000_17.3.e247864.5","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1002\/ajmg.a.61270","article-title":"Costello syndrome: clinical phenotype, genotype, and management guidelines","volume":"179","author":"Gripp","year":"2019","journal-title":"Am J Med Genet A"},{"key":"2025082712072682000_17.3.e247864.6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31360"},{"key":"2025082712072682000_17.3.e247864.7","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1159\/000490083","article-title":"Two consecutive pregnancies with Simpson-Golabi-Behmel syndrome type 1: case report and review of published prenatal cases","volume":"9","author":"Ridn\u00f5i","year":"2018","journal-title":"Mol Syndromol"},{"key":"2025082712072682000_17.3.e247864.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2013.08.019"},{"key":"2025082712072682000_17.3.e247864.9","doi-asserted-by":"publisher","DOI":"10.1159\/000359969"},{"key":"2025082712072682000_17.3.e247864.10","doi-asserted-by":"crossref","first-page":"100336","DOI":"10.1016\/j.gim.2022.11.004","article-title":"Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)","volume":"25","author":"Dungan","year":"2023","journal-title":"Genet Med"},{"key":"2025082712072682000_17.3.e247864.11","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2019.304238"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-247864","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:07:36Z","timestamp":1756321656000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-247864"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,3,4]]},"published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1136\/bcr-2021-247864"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-247864","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3]]}}}