Perinatal imaging findings of inherited Sotos syndrome

Chen, Chih‐Ping; Lin, Shuan‐Pei; Chang, Tung-Yao; Chiu, Nan-Chang; Shih, Shou-Chuan; Lin, Chen‐Ju; Wang, Wayseen; Hsu, Hong-Chih

doi:10.1002/pd.433

Cited by 44 publications

(27 citation statements)

References 17 publications

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“…Our proband presented prenatally with fetal macrosomia, polyhydramnios and pleural effusions without the major malformations specific for Perlman syndrome [Alessandri et al, 2008], BWS [Le Caignec et al, 2004;Williams et al, 2005], SGB [Li et al, 2001], Sotos [Chen et al, 2002;Thomas and Lemire, 2008], and other overgrowth syndromes of prenatal onset ( Table I). The absence of nephromegaly, nephroblastomatosis, and islet hyperplasia in postmortem made the diagnosis of Perlman syndrome unlikely, whereas subsequent molecular testings have also made the diagnosis of BWS and SGB unlikely.…”

Section: Discussionmentioning

confidence: 97%

Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: A newly recognized syndrome?

Chung

Hinek

Keating

et al. 2012

American J of Med Genetics Pt A

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We report on a child with prenatal onset of overgrowth associated with thick, excessive wrinkled skin and other abnormalities including cleft palate, Chiari malformation and polymicrogyria. His clinical features do not resemble any of the known reported overgrowth syndromes. Genetic evaluations, including karyotype, oligoarray, methylation-sensitive multiplex ligation-dependent probe amplification (MLPA) for 11p11.2 region, CDKN1C sequencing, GPC3 sequencing and dosage analysis, and HRAS sequencing, have been un-revealing. Immunohistochemistry done on the patient's cultured skin fibroblasts showed normally assembled elastic fibers and normal pattern of chondroitin sulfate deposition with defective deposition of Collagen I fibers. In addition, there were high levels of immuno-detectable metalloproteinase 3 (MMP3) and undetectable tissue inhibitor of metalloproteinase 1 (TIMP1). The defective collagen deposition in the fibroblast culture could be reversed by the broad spectrum MMP inhibitor, doxycycline. We also present evidence that the fibroblasts of this patient have an increased rate of cellular proliferation. We propose that this is a previously unrecognized overgrowth syndrome associated with increased cellular proliferation and defective collagen I deposition due to an imbalance between MMP and TIMP in fibroblasts.

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Section: Discussionmentioning

confidence: 97%

Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: A newly recognized syndrome?

Chung

Hinek

Keating

et al. 2012

American J of Med Genetics Pt A

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“…Even though it is not seen as possible, any defect in localized structures like CSP may play an important role in the etiology of schizophrenia. On the other hand the abnormalities of CSP are not special to schizophrenia and other psychotic disorders because those findings can be seen in developmental disorders like Fetal Alcohol Syndrome, Sotos and Apert syndromes (15)(16)(17). Though, among the disorders like panic disorder the width and the prevalence are in the normal borders.…”

Section: Discussionmentioning

confidence: 99%

The relationship between schizophrenia and Cavum septum pellucidum: a case study

Aşçıbaşı¹,

Aydın²,

Kuzu³

et al. 2014

Dusunen Adam

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The relationship between schizophrenia and cavum septum pellucidum: a case study Septum pellucidum that forming the medial wall of the lateral ventricles, a thin layer is formed by two laminae. Cavum septum pellucidum (CSP), a space between the two leaflets of the septi pellucidi, is thought to be a neurodevelopmental anomaly associated with schizophrenia. In normal fetal development, the formation of septum pellucidum occurs at the same time with the development of the neighboring limbic system structures such as hippocampus, amygdala, corpus callosum, septal nucleus. Therefore, the anatomical differences that are detected in the septum pellucidum may reflect the embryonal development disorders of the adjacent anatomical structures. Several magnetic resonance imaging studies have reported a higher prevalence of enlarged CSP in patients with schizophrenia than in normal subjects. In the literature of psychiatric disorders, CSP is most associated with schizophrenia. Wide CSP may support the neurodevelopmental etiology of schizophrenia. In this report we present a schizophrenia case. And we tried to discuss the patient's clinical appearance and neurocognitive disability.

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“…Deux publications décrivent de manière rétrospective les données anténatales de deux enfants ayant eu un diagnostic de syndrome de Sotos à la naissance [25,26]. Les signes décrits sont très peu spécifiques.…”

Section: Le Syndrome De Sotosunclassified

Approche de la dysmorphologie fœtale in utero

Philip

Quarello

Gorincour

et al. 2010

Gynécologie Obstétrique & Fertilité

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Perinatal imaging findings of inherited Sotos syndrome

Abstract: Fetuses at risk for Sotos syndrome may present abnormal sonographic findings of the brain and the skull in association with overgrowth, unilateral hydronephrosis and polyhydramnios in the third trimester. Perinatal MRI studies aid in confirmation of the diagnosis.

Cited by 44 publications

References 17 publications

Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: A newly recognized syndrome?

Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: A newly recognized syndrome?

The relationship between schizophrenia and Cavum septum pellucidum: a case study

Approche de la dysmorphologie fœtale in utero

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