Seckel syndrome: A rare case report

Sisodia, Rinky; Raj, Ravi; Goel, Vipin

doi:10.4103/0970-4388.130983

Cited by 11 publications

(13 citation statements)

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“…Another alteration found in children was the cleft lip and palate, with a prevalence of 1.74%. The study conducted by Zen et et al 36 verified the marked presence of cleft palate and / or lip in children with Edwards Syndrome, just as Sisodia et al, 37 found in individuals with Seckel Syndrome.The prevalence of oral candidiasis in this study was 1.74%, considered low when compared to the studies by Yilmaz et al, 38 who cite oral candidiasis as the most prevalent change in their results among other pathologies common to early childhood, with 10.70%. As in the results by Cruz et al, 39 who found a prevalence of 5.45% of pseudomembranous candidiasis, with 8.86% in children aged 3-6 years when compared to other age groups.…”

Section: Discussioncontrasting

confidence: 79%

“…Gusmão et al, 4 and Silva et al, 5 also verified the presence of opacities and hypoplasia in these children, with a prevalence of 28.10% and 30.76%, respectively.In the case of congenital syndromes, it is observed that hypoplasia is a very common DDE. 37,38 In this study, however, the greatest occurrence of changes in enamel development was represented by hypocalcification, with a prevalence of 20.59%. No alteration of the isolated hypoplasia type was observed, with only 1.47% of hypoplasia associated with hypocalcification.…”

Section: Discussionmentioning

confidence: 48%

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Developmental enamel defects and other oral problems in children with microcephaly associate with fetal exposure to zika virus (ZIKV)

Agostino¹,

Chagas²,

Almeida³

et al. 2020

IPCB

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Introduction: Children with microcephaly as a result of fetal exposure to the Zika virus (ZIKV) may experience brain changes, neurological abnormalities, bone and craniofacial deformities. Objective: The objective of this study was to describe oral problems and oral health habits involving children in early childhood with microcephaly associated with fetal exposure to ZIKV. Methodology: A cross-sectional study was carried out on a sample of children with microcephaly, exposed to ZIKV during the pregnancy, attended at the Neuropediatrics outpatient clinic of a reference center in Salvador-BA. Clinical examination of oral conditions and interviews with mothers/ guardians were performed to obtain sociodemographic data and lifestyle habits. A descriptive analysis of the variables and exploratory analysis of factors associated with defects in enamel development (DDE) were done using Pearson's chi square and a significance level of 5%. Results: 74 children participated in the study and a higher frequency of the following oral conditions was observed: delayed eruption chronology (100%), dental biofilm (55.88%) and enamel defects (DDE) (22.06%). Bohn nodules (6.85%), micro dents (2.70%) and ectopically positioned dental elements (1.35%) were less frequent. Only one of them showed incipient caries lesion (1.47%). The occurrence of DDE was more frequent among those with ogival palate, normal weight at birth and who did not have an eruptive delay (p <0.05). In oral habits, 52.70% used a pacifier, 50% feeding at night, 66.22% used sugar and 52.24% brushed teeth before bed. Conclusion: Monitoring oral health conditions is necessary to minimize oral health problems in these children.

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Section: Discussioncontrasting

confidence: 79%

Section: Discussionmentioning

confidence: 48%

Developmental enamel defects and other oral problems in children with microcephaly associate with fetal exposure to zika virus (ZIKV)

Agostino¹,

Chagas²,

Almeida³

et al. 2020

IPCB

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“…3 The diagnosis of this syndrome is mainly based on clinical findings. 16 However, pregestational consultation and genetic diagnosis are of particular importance as the next offspring of a family with a known case of Seckel syndrome has a 25% chance of being affected. 17,18 Intrauterine ultrasound features, including abnormal head appearance, extreme microcephaly, cystic hygroma, encephalocele, posterior fossa cysts, cortical dysplasia and corpus callosum agenesis, can also be exploited for prenatal diagnosis.…”

Section: Discussionmentioning

confidence: 99%

<p>A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review</p>

Saeidi¹,

Shahbandari²

2020

IMCRJ

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Background: Seckel syndrome is a rare genetic disorder with autosomal recessive inheritance. It is characterized by dysmorphic features, intrauterine and postnatal growth restriction, microcephaly and mental retardation. Although cardiovascular complications are not prevalent in this syndrome, severe sinus bradycardia, hypertension and brain vasculopathy are reported. Here, for the first time, we describe a case of lower extremity arterial occlusion in a case of Seckel syndrome. Case Presentation: An 8-year-old girl with the characteristic features of Seckel syndrome was admitted to the children's hospital with the complaint of left lower extremity pain and a deep ulcer on her left shin. On examination, the left extremity was cooler than the other side, with a bluish color. Dorsalis pedis and popliteal artery pulses were not palpable on the left. A wound measuring 3 by 5 cm with gangrenous margins was visible on the anterior surface of the left leg. Severe stenosis in the left superficial femoral artery was reported on angiography. Considering the lean body of the patient, angioplasty was not possible and conservative wound care, analgesic drugs and aspirin were recommended. Conclusion: Clinicians should be suspicious of vascular complications in patients with Seckel syndrome, even in the absence of any other risk factors.

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“…MCDs clinical manifestations include epilepsy, autistic features, ID and developmental delay, coupling MCDs with neuropsychiatric disorders. For example, individuals with Rett Syndrome present microcephaly and ASD at the same time, while in Seckel and Angelman syndrome patients exhibit microcephaly and ID ( Sisodia et al, 2014 ). Patients with Prader-Willi ( Bennett et al, 2015 ) and Timothy syndrome ( Bauer et al, 2021 ) suffer from both ID and ASD, while in Fragile X syndrome characteristics of ASD, ID, and ADHD are present simultaneously.…”

Section: Using the Correct System In Modeling Neurodevelopmental Diso...mentioning

confidence: 99%

Research models of neurodevelopmental disorders: The right model in the right place

Damianidou

Mouratidou²,

Kyrousi³

2022

Front. Neurosci.

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Neurodevelopmental disorders (NDDs) are a heterogeneous group of impairments that affect the development of the central nervous system leading to abnormal brain function. NDDs affect a great percentage of the population worldwide, imposing a high societal and economic burden and thus, interest in this field has widely grown in recent years. Nevertheless, the complexity of human brain development and function as well as the limitations regarding human tissue usage make their modeling challenging. Animal models play a central role in the investigation of the implicated molecular and cellular mechanisms, however many of them display key differences regarding human phenotype and in many cases, they partially or completely fail to recapitulate them. Although in vitro two-dimensional (2D) human-specific models have been highly used to address some of these limitations, they lack crucial features such as complexity and heterogeneity. In this review, we will discuss the advantages, limitations and future applications of in vivo and in vitro models that are used today to model NDDs. Additionally, we will describe the recent development of 3-dimensional brain (3D) organoids which offer a promising approach as human-specific in vitro models to decipher these complex disorders.

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Seckel syndrome: A rare case report

Cited by 11 publications

References 0 publications

Developmental enamel defects and other oral problems in children with microcephaly associate with fetal exposure to zika virus (ZIKV)

Developmental enamel defects and other oral problems in children with microcephaly associate with fetal exposure to zika virus (ZIKV)

<p>A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review</p>

Research models of neurodevelopmental disorders: The right model in the right place

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