{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:07:35Z","timestamp":1777370855967,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,12,28]],"date-time":"2018-12-28T00:00:00Z","timestamp":1545955200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Simpson\u2013Golabi\u2013Behmel syndrome (SGBS) is a rare genetic condition and is inherited in an X\u2010linked recessive manner. The disease is caused by a change in the nucleotide sequence of an X\u2010linked gene encoding glypican 3, a protein belonging to the heparan\u2010sulfate membrane proteoglycan family. SGBS case studies are almost entirely restricted to the pediatric population. Scarce literature describing SGBS course in adults may be due to both the high mortality of SGBS patients in childhood and low rate of SGBS diagnosis in adults. We present a case of a 39\u2010year\u2010old man with an initial diagnosis of acromegaly. Genetic tests revealed a hitherto unreported deletion in the <jats:italic>GPC3<\/jats:italic> gene. SGBS manifestations in our patient included tall stature, dysmorphic features, and central nervous system (CNS) anatomical pathology. MRI of the head visualized abnormalities of median line structures, a feature consistent with SGBS: an unclosed craniopharyngeal canal, a sellar\u2010suprasellar cyst, dysmorphic pituitary gland, and a cyst of the septum pellucidum. Moreover, cardiomyopathy complicated by life\u2010threatening paroxysmal ventricular tachycardia was diagnosed. Although various cardiac anomalies are often found in SGBS, their pathogenesis is unclear and may be multifactorial. We believe that the presented case contributes to a better understanding of SGBS and may help clinicians in introducing prophylaxis and treatment for its comorbidities.<\/jats:p>","DOI":"10.1002\/ajmg.a.61013","type":"journal-article","created":{"date-parts":[[2018,12,28]],"date-time":"2018-12-28T08:23:24Z","timestamp":1545985404000},"page":"322-328","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Simpson\u2013Golabi\u2013Behmel syndrome in a 39\u2010year\u2010old male patient with suspected acromegaly\u2014A case study"],"prefix":"10.1002","volume":"179","author":[{"given":"El\u017cbieta","family":"Andrysiak\u2010Mamos","sequence":"first","affiliation":[{"name":"Pomeranian Medical University Department of Endocrinology, Metabolic and Internal Diseases  Szczecin Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1918-4519","authenticated-orcid":false,"given":"Karol Piotr","family":"Sagan","sequence":"additional","affiliation":[{"name":"Pomeranian Medical University Department of Endocrinology, Metabolic and Internal Diseases  Szczecin Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danuta","family":"Lietz\u2010Kijak","sequence":"additional","affiliation":[{"name":"Pomeranian Medical University, Independent Unit of Propaedeutic and Dental Physical Diagnostics Faculty of Medicine and Dentistry  Szczecin Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward","family":"Kijak","sequence":"additional","affiliation":[{"name":"Pomeranian Medical University Scientific Unit of Dysfunction of the Masticatory System, Faculty of Medicine and Dentistry, Department of Prosthodontics  Szczecin Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Ka\u017amierczak","sequence":"additional","affiliation":[{"name":"Pomeranian Medical University Ophthalmology Clinic  Szczecin Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Pietrzyk","sequence":"additional","affiliation":[{"name":"Pomeranian Medical University Genetic Outpatient Clinic  Szczecin Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta","family":"Sowinska\u2010Przepiera","sequence":"additional","affiliation":[{"name":"Pomeranian Medical University Department of Endocrinology, Metabolic and Internal Diseases  Szczecin Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leszek","family":"Sagan","sequence":"additional","affiliation":[{"name":"Pomeranian Medical University Department of Neurosurgery and Pediatric Neurosurgery  Szczecin Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anhelli","family":"Syrenicz","sequence":"additional","affiliation":[{"name":"Pomeranian Medical University Department of Endocrinology, Metabolic and Internal Diseases  Szczecin Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291401"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.140871"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2008.03.006"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31360"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1530\/JOE-17-0083"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1124\/pr.117.013896"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33561"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170128"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37518"},{"key":"e_1_2_8_11_1","first-page":"110","article-title":"Roles of FGF signals in heart development, health, and disease","volume":"4","author":"Itoh N.","year":"2016","journal-title":"Frontiers in Cell and Development Biology"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36825"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ctrv.2017.11.002"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2004.12.002"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<378::AID-AJMG7>3.0.CO;2-A"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.26265"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38664"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.08.029"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32154"},{"key":"e_1_2_8_20_1","first-page":"18","article-title":"A previously unrecognized X\u2010linked syndrome of dysmorphia","volume":"11","author":"Simpson J. 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