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2021 5
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31 results

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Delineating septo-optic dysplasia.
Lubinsky M, Encha-Razavi F. Lubinsky M, et al. Birth Defects Res. 2022 Dec 1;114(20):1343-1353. doi: 10.1002/bdr2.2095. Epub 2022 Oct 6. Birth Defects Res. 2022. PMID: 36200678 Review.
BACKGROUND: Septo-optic dysplasia (SOD), once a variable triad of septum pellucidum defects (SPDs), optic nerve hypoplasia (ONH), and hypopituitarism, has had multiple findings added, with uncertain causes, definitions, and limits. ...
BACKGROUND: Septo-optic dysplasia (SOD), once a variable triad of septum pellucidum defects (SPDs), optic nerve hypopla …
Novel Genetic Diagnoses in Septo-Optic Dysplasia.
Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, University Of Washington Center For Mendelian Genomics, Semina EV. Reis LM, et al. Genes (Basel). 2022 Jun 28;13(7):1165. doi: 10.3390/genes13071165. Genes (Basel). 2022. PMID: 35885948 Free PMC article.
Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases. ...The i …
Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic ne …
Biological pathways leading to septo-optic dysplasia: a review.
Pasca L, Politano D, Morelli F, Garau J, Signorini S, Valente EM, Borgatti R, Romaniello R. Pasca L, et al. Orphanet J Rare Dis. 2025 Apr 3;20(1):157. doi: 10.1186/s13023-025-03541-6. Orphanet J Rare Dis. 2025. PMID: 40181463 Free PMC article. Review.
BACKGROUND: The precise etiology of septo-optic dysplasia (SOD) remains elusive, to date a complex interaction between genetic predisposition and prenatal exposure to environmental factors is believed to come into play. ...MAIN BODY: Literature search was con …
BACKGROUND: The precise etiology of septo-optic dysplasia (SOD) remains elusive, to date a complex interaction between …
Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review.
Mann A, Aghababaie A, Kalitsi J, Martins D, Paloyelis Y, Kapoor RR. Mann A, et al. Mol Autism. 2023 Jul 25;14(1):26. doi: 10.1186/s13229-023-00559-0. Mol Autism. 2023. PMID: 37491272 Free PMC article.
BACKGROUND: Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia. ...
BACKGROUND: Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hy …
The Prevalence of Septo-Optic Dysplasia in Neonates with Absent Cavum Septi Pellucidi Identified during Routine Prenatal Imaging.
Phillipi MA, Khaki S, Kim AJH, Regner MF, Gievers L. Phillipi MA, et al. Am J Perinatol. 2025 Sep;42(12):1630-1637. doi: 10.1055/a-2521-1020. Epub 2025 Jan 21. Am J Perinatol. 2025. PMID: 39837560
This study aimed to determine the prevalence of septo-optic dysplasia (SOD) in patients with prenatally identified absent cavum septi pellucidi (CSP), agenesis of the corpus callosum (ACC), or dysgenesis of the corpus callosum (DCC).This retrospective chart r …
This study aimed to determine the prevalence of septo-optic dysplasia (SOD) in patients with prenatally identified abse …
Sleep Disturbances in Children With Septo-Optic Dysplasia: A Retrospective Cohort Study.
McCarty G, Iyer M, Danieli H, Senthilvel E, Karakas C, Singer E. McCarty G, et al. Pediatr Neurol. 2025 Nov;172:111-117. doi: 10.1016/j.pediatrneurol.2025.08.013. Epub 2025 Aug 21. Pediatr Neurol. 2025. PMID: 40939567
BACKGROUND: Septo-optic dysplasia (SOD) is a heterogeneous neurodevelopmental disorder diagnosed based on the presence of two or more of the following findings: optic nerve hypoplasia, absence of the septum pellucidum and/or dysgenesis of the corpus callosum, …
BACKGROUND: Septo-optic dysplasia (SOD) is a heterogeneous neurodevelopmental disorder diagnosed based on the presence …
Prenatal diagnosis and outcome of fetuses with isolated agenesis of septum pellucidum: cohort study and meta-analysis.
Di Pasquo E, Kuleva M, Arthuis C, Morganelli G, Ormitti F, Millischer AE, Grevent D, Ville Y, Ghi T, Salomon LJ. Di Pasquo E, et al. Ultrasound Obstet Gynecol. 2022 Feb;59(2):153-161. doi: 10.1002/uog.23759. Epub 2022 Jan 18. Ultrasound Obstet Gynecol. 2022. PMID: 34396620 Free article. Review.
The following outcomes were analyzed: incidence of chromosomal anomalies, agreement between antenatal and postnatal findings, overall incidence of septo-optic dysplasia (SOD) and incidence of major neurological disability (motor, language, coordination or beh …
The following outcomes were analyzed: incidence of chromosomal anomalies, agreement between antenatal and postnatal findings, overall incide …
31 results