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Beckwith–Wiedemann Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Jirat Chenbhanich, Sirisak Chanprasert, Wisit Cheungpasitporn
Congenital hypothyroidism and maternal diabetes mellitus can result in neonatal macrosomia and macroglossia with or without other features. Asymmetry should be determined if it represents overgrowth (hemihyperplasia) or undergrowth (hemihypoplasia), since the latter is theoretically not associated with increased tumor risk. Thorough physical examination, relevant investigations, consultation with geneticists, and ongoing follow-up are mainstay management if genetic overgrowth syndromes are suspected. Differential diagnoses include Simpson−Golabi−Behmel syndrome (SGBS), Costello syndrome, Perlman syndrome, and Sotos syndrome, all of which share some clinical features of BWS.
Endocrine and reproductive disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
These are likewise mostly sporadic and include Sotos syndrome (often due to new mutations), Weaver syndrome, Beckwith-Wiedemann syndrome (commonly with macroglossia and omphalocoele), and the DNMT3A-related overgrowth syndrome.
General physical
Published in A Sahib El-Radhi, James Carroll, Paediatric Symptom Sorter, 2017
A Sahib El-Radhi, James Carroll
Overgrowth syndromes are a group of children characterised by excessive somatic growth. BWS is the most well known of these syndromes. They are predisposed to cancers such as nephroblastoma and adrenocortical carcinoma.
Corpus Callosum Abnormalities and Short Femurs in Beckwith–Wiedemann Syndrome: A Report of Two Fetal Cases
Published in Fetal and Pediatric Pathology, 2018
Aurélie Beaufrère, Maryse Bonnière, Julia Tantau, Philippe Roth, Elodie Schaerer, Fréderic Brioude, Irène Netchine, Bettina Bessières, Antoinette Gelot, Michel Vekemans, Ferechté Razavi, Delphine Heron, Tania Attié-Bitach
Beckwith–Wiedemann syndrome (BWS) (OMIM #130650) is the most common overgrowth syndrome [1–3]. Molecular heterogeneity is observed in BWS with several genetic and/or epigenetic alterations in imprinted growth regulatory genes at 11p15.5 [1–5]. Approximately 85% of reported BWS cases are sporadic, while the remaining 15% are familial [5]. Clinical features are highly variable, including neonatal macrosomia, post-natal overgrowth, abdominal wall defects (omphalocele, umbilical hernia, diastasis recti), macroglossia, organomegaly, nephro-ureteral malformations, ear anomalies, capillary malformations (hemangioma and nevus flammeus), hypoglycemia, and predisposition to develop embryonic tumors in infancy [1,3,6]. Placenta anomalies are also observed [7,8]. Possible patterns include autosomal dominant inheritance with variable expressivity, contiguous gene duplication at 11p15, and genomic imprinting resulting from a defective or absent copy of the maternally derived gene. Specific phenotype–epigenotype correlations have been reported and recurrence risk estimation is guided by the molecular etiology [5]. Brains malformations were occasionally reported, mainly posterior fossa abnormalities [9–14].
Gene expression analysis and the risk of relapse in favorable histology Wilms’ tumor
Published in Arab Journal of Urology, 2023
Mariam M. Abdel-Monem, Omali Y. El-Khawaga, Amira A. Awadalla, Ashraf T. Hafez, Asmaa E. Ahmed, Mohamed Abdelhameed, Ahmed Abdelhalim
SLC22A18 (solute carrier family 22, member 18) is a tumor suppressor gene located at 11p15. This genetic region is known to harbor genes coding for the Beckwith-Wiedemann syndrome and overgrowth syndromes. Abnormalities of this genetic region have been reported in a variety of cancers including 69% of WTs [7]. SLC22A18 inhibits colony formation and induces G2/M arrest. Downregulation and mutations affecting this gene have been described in glioblastoma, rhabdomyosarcoma, lung, breast and colorectal cancers. Aberrant splicing of this gene has been observed in some WT cases. Downregulation of SLC22A18 has been linked to poor prognosis of glioma and breast cancer [20]. Likewise, we found that patients who suffered WT relapse had lower expression levels of SLC22A18.
Idiopathic polyhydramnios and foetal macrosomia in the absence of maternal diabetes: clinical vigilance for costello syndrome
Published in Journal of Obstetrics and Gynaecology, 2022
The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumours, and other anomalies (Baujat et al. 2005; Brioude et al. 2019). When an overgrowth syndrome is suspected prenatally in an euglycemic pregnancy, it is essential that the differential diagnosis and selection of appropriate tests should be considered. The molecular characterisation is complex, time consuming and expensive. For those with a normal array result, trio WES that is able to concurrently investigate multiple genes will allow fast and accurate prenatal diagnosis, ensuring that multidisciplinary medical management was prepared for postnatal period.