Bilateral Wilms’ Tumor in a Female with Simpson-Golabi-Behmel Syndrome
نویسندگان
چکیده
A 20-month-old female presented with a palpable abdominal mass. Imaging revealed bilateral renal masses and pulmonary nodules. The genetic evaluation identified de novo 540kb X-chromosome deletion involving GPC3, PHF6, HPRT1, highly skewed X-inactivation (100:0). This clinical picture was suggestive of Wilms’ tumor in the setting Simpson-Golabi-Behmel Syndrome.
منابع مشابه
A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.
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متن کاملSimpson-Golabi-Behmel syndrome types I and II
Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, heart, central nervous system, kidney, and gastrointestinal tract may also be observed. Intellectual disability, early motor milestones...
متن کاملSimpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications.
To the Editor: Mutations and genomic rearrangements involving the GPC3 gene lead to an X-linked overgrowth syndrome called Simpson–Golabi–Behmel type I (SGBS1) (1). One case of a GPC4 duplication linked to SGBS1 has been reported in the literature (2); however, no point mutations or deletions have been described so far. We present a male foetus and his mother with two microduplications involvin...
متن کاملFirst reported case of Simpson–Golabi–Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked syndrome. Female carriers may have mild manifestations. Macrosomia, polyhydramnios, and kidney and urinary tract anomalies are common findings in male fetuses. We present the first case of a severely affected female fetus with stigmata of SGBS and a deletion involving the GPC3 gene.
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BACKGROUND Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked recessive overgrowth syndrome manifesting primarily in boys and characterised by macrosomia, distinctive facial features and multiple congenital abnormalities. Although this rare condition is thought to be underdiagnosed, making a diagnosis is important as affected boys have a 7.5% risk of developing visceral tumours and surveillan...
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ژورنال
عنوان ژورنال: Surgical case reports
سال: 2022
ISSN: ['2198-7793']
DOI: https://doi.org/10.31487/j.scr.2022.08.01