Sotos syndrome: A study of antenatal presentation

Zhang, Yongling; Jing, Xiangyi; Chen, Guilan; Li, Zhen; Li, Dong-Zhi

doi:10.1016/j.ejogrb.2022.10.006

Cited by 4 publications

(9 citation statements)

References 23 publications

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“…1,3 Currently, most reported cases of Sotos syndrome were detected during the childhood period and only a few were suspected prenatally mainly due to the presence of macrocephaly with or without ventriculomegaly associated with polyhydramnios. [4][5][6] Our patient presented with a mild ventriculomegaly, whereas the HC was within the higher normal range and the amount of amniotic fluid was only minimally elevated. This report further illustrates the importance of dedicated neurosonography in obtaining a complete depiction of the fetal brain.…”

Section: Casementioning

confidence: 61%

“…It is characterized by rapid growth during childhood (tall stature and unusually large head), typical facial dysmorphic features, neurodevelopmental delays of both mental and movement abilities, and learning disabilities 1,3 . Currently, most reported cases of Sotos syndrome were detected during the childhood period and only a few were suspected prenatally mainly due to the presence of macrocephaly with or without ventriculomegaly associated with polyhydramnios 4–6 . Our patient presented with a mild ventriculomegaly, whereas the HC was within the higher normal range and the amount of amniotic fluid was only minimally elevated.…”

Section: Casementioning

confidence: 68%

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Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome

Bornstein,

Reiss,

Malinger

2023

Prenatal Diagnosis

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Sotos syndrome is a rare genetic disorder that occurs in less than 1 in 10,000 births. It is characterized by rapid growth during childhood (tall stature and unusually large head), typical facial dysmorphic features, neurodevelopmental delays of both mental and movement abilities, and learning disabilities. Prenatal diagnosis of Sotos syndrome is infrequent and sonographic findings are not well characterized as the condition is generally detected during childhood. We present a case in which routine third trimester ultrasound detected intracranial findings including ventriculomegaly, periventricular pseudocysts, and increased periventricular echogenicity. Although initially suspected to be the result of fetal infection with CMV, amniocentesis excluded fetal infection and microarray analysis detected a de novo 2.13 MB interstitial deletion of 5q35.2–35.3 involving several genes including the NSD1 gene, thus confirming the diagnosis of Sotos syndrome. This case provides novel characterization of the sonographic phenotype in a fetus with Sotos syndrome and discusses the differential diagnosis.

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Section: Casementioning

confidence: 61%

Section: Casementioning

confidence: 68%

Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome

Bornstein,

Reiss,

Malinger

2023

Prenatal Diagnosis

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“…Chromosomal microarray was performed in all cases and revealed 5q35 deletions in seven cases, and whole exome sequencing detected a maternally inherited NSD1 variant in one case. Thus, fetal ultrasound findings in cases with Sotos syndrome, associated with deletions in 5q35 and point mutation in NSD1, are not specific, with the most common finding being mild ventriculomegaly [8].…”

Section: Discussionmentioning

confidence: 99%

Sotos syndrome: a case report

Garmes,

Donaire,

Lima

et al. 2023

MedNEXT

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Background and Objective: This clinical case study analyzed the characteristics of Sotos syndrome. Since it is a rare syndrome and is related to the occurrence of behavioral disorders. Health professionals who work with this population were informed so that this condition is recognized, enabling appropriate treatment and consequently a good quality of life. This study was analyzed and approved by the Research Ethics Committee according to the reasoned opinion number, under number 6,089,691, and the patient's consent was obtained through the Free and Informed Consent Form. Final Considerations: Sotos Syndrome should be considered when the patient presents macrocrania, growth acceleration, and behavioral changes associated with varying degrees of delay. The diagnosis is clinical, but complementary tests help, as they rule out other possible causes for such an association of symptoms since there is no specific test for the syndrome to date. The treatment of these patients must be individualized, using pharmacological and non-pharmacological strategies according to the needs of the moment. Clinical follow-up is always necessary, due to complications that may arise.

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“…Kidney abnormalities have been reported (Castro et al, 2021), including pyelectasis (C.-P. Chen et al, 2014;Y. Zhang et al, 2017;Y.-L. Zhang et al, 2022), hydronephrosis (C. Chen et al, 2002), and renal dysplasia (Y. Zhang et al, 2017).…”

Section: Prenatal Ultrasound Findingsmentioning

confidence: 99%

“…Feeding difficulties (Castro et al, 2021;Muhsin et al, 2022;Y.-L. Zhang et al, 2022) and neonatal jaundice often affect newborns with SOTOS (Y.-L. Zhang et al, 2022). The feeding difficulties can be related to the high-arched palate that frequently affects subjects with Sotos syndrome.…”

Section: Postnatal Characteristicsmentioning

confidence: 99%

Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management

Avagliano,

Castiglioni,

Lettieri

et al. 2024

Birth Defects Research

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BackgroundChromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under‐ and over‐, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period.MethodsAmong the numerous chromatinopathies, we have selected six of the most documented in the literature offering evidence about two fetal overgrowth (Sotos and Weaver syndrome) and four fetal undergrowth syndromes (Bohring Opitz, Cornelia de Lange, Floating‐Harbor, and Meier Gorlin syndrome), describing their molecular characteristics, maternal biochemical results and early pregnancy findings, prenatal ultrasound findings, and postnatal characteristics.Results/ConclusionTo date, the scarce data in the literature on prenatal findings are few and inconclusive, even though these parameters may contribute to a more rapid and accurate diagnosis, calling for a better and more detailed description of pregnancy findings.

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Sotos syndrome: A study of antenatal presentation

Cited by 4 publications

References 23 publications

Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome

Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome

Sotos syndrome: a case report

Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management

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