ArticleBMJ case reports2025
Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
Article in BMJ case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Dysmorphic syndromes with overgrowth - systematic review. Part 1 - monogenic syndromes.Pediatric endocrinology, diabetes, and metabolism · 2025Pooled it
- Anaesthetic challenges in central hepatectomy for hepatoblastoma in an infant with Simpson-Golabi-Behmel syndrome.Indian journal of anaesthesia · 2026Article
- Lipid metabolism abnormalities in pediatric abdominal solid malignant tumors: a comprehensive review.Frontiers in pediatrics · 2025Review
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1). The child was treated with neoadjuvant chemotherapy followed by central hepatectomy and is currently in remission. We discuss the predisposing syndromes for hepatoblastoma, as the neonatal onset of malignancy in the setting of dysmorphism and congenital anomalies led us to the molecular diagnosis. Children with multisystem involvement require interdisciplinary care, which is detailed. The role of neoadjuvant chemotherapy in facilitating extensive liver resection and the use of technological advancement like intraoperative imaging that can aid definitive resection is discussed. Long-term follow-up for surveillance of primary cancers is crucial in the comprehensive care of cancer-predisposing conditions, the recommendations of which are listed.
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