Publication Name	World Journal of Clinical Cases
Manuscript ID	120716
DOI	10.12998/wjcc.120716
Country	Greece

Category	Pediatrics
Manuscript Type	Case Report
Article Title	De novo ARID1A Coffin-Siris syndrome, with hypothyroidism and dyslipidemia: A case report and review of literature
Manuscript Source	Invited Manuscript
All Author List	Michael N Fragos, Ilektra Toulia, Maria G Grammatikopoulou, Parthena Savvidou, Ioannis Taiganidis, Panagiota Zissiadis, Charalampos Antachopoulos, Dimitrios G Goulis and Kyriaki Tsiroukidou
Funding Agency and Grant Number
Corresponding Author	Maria G Grammatikopoulou, Assistant Professor, PhD, Immunonutrition Unit, Department of Rheumatology and Clinical Immunology, University General Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis Campus, Argonafton & Filellinon Street, Larissa GR-41223, Greece. mgrammat@uth.gr
Key Words	Coffin-Siris syndrome; Short stature; Hypercholesterolemia; Subclinical hypothyroidism; Dual molecular diagnosis; Diet; Neurodevelopmental disorder; Growth hormone deficiency; Lifestyle intervention; Neurodivergent; Case report
Core Tip	Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder involving the BRG1/BRM-associated factor (SWI/SNF) chromatin-remodeling complex, characterized by coarse facial features, distal phalanx hypoplasia/aplasia, developmental delay, and multisystem involvement. We report a child with CSS, subclinical hypothyroidism, and familial hypercholesterolemia caused by a heterozygous LDLR variant. Lifestyle changes and levothyroxine improved growth initially (7.6 cm/year), but later on, growth velocity declined (4.2 cm/year) in parallel to insulin-like growth factor 1 levels. A glucagon stimulation test confirmed growth hormone (GH) deficiency. Recombinant GH therapy in ARID1A-related CSS should be individualized because impaired tumor suppression and possible hepatocyte damage may increase hepatoblastoma risk.
Citation	Fragos MN, Toulia I, Grammatikopoulou MG, Savvidou P, Taiganidis I, Zissiadis P, Antachopoulos C, Goulis DG, Tsiroukidou K. De novo ARID1A Coffin-Siris syndrome, with hypothyroidism and dyslipidemia: A case report and review of literature. World J Clin Cases 2026; In press DOI: https://doi.org/10.12998/wjcc.120716
PDF	120716-in-press.pdf

Received	2026-03-06 02:15
Peer-Review Started	2026-03-06 02:15
First Decision by Editorial Office Director	2026-04-15 08:56
Return for Revision	2026-04-15 08:56
Revised	2026-05-15 18:54
Publication Fee Transferred
Second Decision by Editor	2026-06-05 03:10
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director	2026-06-05 08:04
Articles in Press	2026-06-05 08:04
Edit the Manuscript by Language Editor
Typeset the Manuscript

ISSN	2307-8960 (online)
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