The Smith–Lemli–Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review

Rojare, Camille; Opdenakker, Yasmin; Laborde, Amélie; Nicot, Romain; Mention, Karine; Ferri, Joël

doi:10.1016/j.ortho.2019.03.020

Cited by 7 publications

(4 citation statements)

References 25 publications

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“…That said, the efficacy of distraction is less clear in sPRS patients with more severe syndromes with additional comorbidities such as Smith-Lemli-Optiz or otopalatodigitial syndrome. 13,18,19 Furthermore, there were no statistically significant differences between our 2 cohorts in terms of age at time of distraction, AO, etc (Table 1), factors that may have confounded analysis were controlled for. Results regarding the quantification of mandibular morphology and airway morphological changes, palatoplasty, or other medical comorbidities were beyond the scope of this analysis.…”

Section: Discussionmentioning

confidence: 91%

“…Nonetheless, surgical success was not statistically different between the 2 groups (for iPRS cohort vs for sPRS cohort, P = 0.0) and demonstrates that although the iPRS group has a higher success rate, the success rate for the sPRS group is still highly acceptable (Table 3). That said, the efficacy of distraction is less clear in sPRS patients with more severe syndromes with additional comorbidities such as Smith-Lemli-Optiz or otopalatodigitial syndrome 13,18,19 …”

Section: Discussionmentioning

confidence: 99%

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Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence

et al. 2021

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Background Pierre Robin sequence (PRS) is a triad of congenital facial abnormalities that can present as a syndrome (syndromic PRS [sPRS]) or an isolated entity (isolated PRS [iPRS]). Patients with PRS can develop airway and feeding problems that may result in failure to thrive. Mandibular distraction osteogenesis (MDO) is a method for improving the functional issues associated with breathing and feeding. There is a Paucity of literature evaluating the outcomes of MDO between sPRS and iPRS patients. Methods An institutional review board–approved retrospective review of PRS patients managed by a single surgeon and treated with MDO between January 2015 and December 2019 at a tertiary referral hospital was performed. The patients were stratified into iPRS or sPRS based on gene testing. Airway outcome measures included avoidance of tracheostomy, relief of sleep apnea, and oxygen saturation improvement. Primary feeding measures included achievement of full oral feeds and growth/weight gain. Statistical analysis included t tests and χ2 tests where appropriate using SPSS. Results Over the study period, of the 29 infants with PRS, 55% identified as iPRS and 45% as sPRS. There were no significant differences in the patient characteristics, apnea-hypoxia index (22.27 ± 12.27) and laryngeal view (3 ± 0.79) pre-MDO. After MDO, 83% of the subjects achieved a positive feeding outcome and 86% achieved a positive airway outcome with no statistical significance between sPRS and iPRS (P = 0.4369). There was a statistically significant change post-MDO in apnea-hypoxia index (5.24 ± 4.50, P = 0.02) and laryngeal view (1.59 ± 1.00, P = 0.01). Conclusions Our recent experience would lead us to believe that sPRS patients have greater morbidities and challenging clinical developments that, when properly evaluated, can be managed by MDO. There is a potential role for MDO in reducing the need for traditional surgical interventions for respiratory and feeding problems in both iPRS and sPRS patients.

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence

et al. 2021

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“…However in humans defects in cholesterol synthesis and consequent sterol accumulation result in severe malformations, such as are Smith-Lemli-Opitz syndrome (SLOS), Antley-Bixler syndrome, Desmosterolosis, and others. Importantly, even if in all cases the same metabolic pathway (cholesterol synthesis) is disrupted, there are dramatic differences in the disease phenotypes observed, depending on which sterols accumulate in these patients (24)(25)(26)(27).…”

Section: Introductionmentioning

confidence: 99%

HepG2 cells with knockouts ofCYP51A1,DHCR24orSC5Dfrom cholesterol synthesis accumulate sterols influencing distinct regulatory pathways

Skubic,

Trček,

Nassib

et al. 2023

Preprint

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Sterol intermediates of cholesterol synthesis are largely dedicated to cholesterol. Here we assess how they influence downstream gene regulatory pathways by developing knockouts (KOs) for consecutive enzymes of cholesterol synthesis. Depletion of CYP51, DHCR24 and SC5D resulted in accumulation of specific sterols. The overlap of deregulated genes was only 9% in terms of steroid metabolism and proliferation control, with majority of pathways changed in just one KO. The CYP51 KO with highly elevated 24,25-dihydrolanosterol showed significantly higher proportion of cells in the G2+M phase, in line with enriched cancer and cell cycle pathways, and elevated LEF1 by activation of WNT/NFKB/SMAD signalling. In contrast, SC5D and DHCR24 KOs (with elevated lathosterol or desmosterol) slowed cell proliferation and promoted apoptosis with downregulated E2F, mitosis, cell cycle transition, and enriched HNF1A tumor suppressor. These findings demonstrate that sterols from cholesterol synthesis control distinct gene regulatory pathways, and only early sterols promote cell proliferation.

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“…The genetic origin of the disease lies in a mutation in the DHCR7 gene. This gene is responsible for producing the enzyme 7-Dehydrocholesterol reductase, which synthesizes cholesterol [50,51]. Low cholesterol levels cause symptoms that vary in severity, ranging from mild to fatal.…”

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confidence: 99%

Speech Disorders of Genetic Origin in Teaching Practice

Rudin¹

2021

Education &Amp; Pedagogy Journal

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In recent years, there has been a significant increase in children with various speech disorders. Also, identifying the factors causing these disorders early and providing proper support is increasingly important. If the steps to correct such speech disorders are not taken quickly, secondary issues, such as communication, socialization, and educational problems, are observed. Training and corrective measures should be carried out while considering both the individual’s psychological and physiological characteristics. Identifying the cause and symptoms of a speech disorder plays an important role when developing a plan for a child’s education, upbringing, and development. These measures are crucial to providing the most suitable help to children with such disorders. The signs identified during diagnosis and those revealing the causes of the speech disorders are vital for outlining a pathogenetic description of the disorder and prescribing a set of corrective measures. Speech disorders indicate the intactness of a large part of the central nervous system, including motor and sensory areas. Moreover, they have diagnostic applications in cases of organic brain damage, malfunctions in the development of the nervous system, and mental retardation of various origins. The pedagogical process must include a full examination, as well as the proper combined support by speech disorder specialists. It is possible to carry out differential diagnoses of speech function disorders using the results of genetic studies and prepare correctional programs tailored to the identified disorders.

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The Smith–Lemli–Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review

Cited by 7 publications

References 25 publications

Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence

Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence

HepG2 cells with knockouts ofCYP51A1,DHCR24orSC5Dfrom cholesterol synthesis accumulate sterols influencing distinct regulatory pathways

Speech Disorders of Genetic Origin in Teaching Practice

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