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82 results

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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with visual defects and brain anomalies"
Page 1
Diagnosis, treatment, and prevention of cerebral palsy.
O'Shea TM. O'Shea TM. Clin Obstet Gynecol. 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. Clin Obstet Gynecol. 2008. PMID: 18981805 Free PMC article. Review.
Among children born at or near term, about two-thirds have neuroimaging abnormalities, including focal infarction, brain malformations, and periventricular leukomalacia. ...Mortality risk increases incrementally with increasing number of impairments, including intel …
Among children born at or near term, about two-thirds have neuroimaging abnormalities, including focal infarction, brain malfo …
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
CTNNB1 [OMIM *116806] encodes beta-catenin, an integral part of the cadherin/catenin complex, which functions as effector of Wnt signaling. CTNNB1 is highly expressed in brain as well as in other tissues, including heart. Heterozygous CTNNB1 pathogenic variations are assoc …
CTNNB1 [OMIM *116806] encodes beta-catenin, an integral part of the cadherin/catenin complex, which functions as effector of Wnt signaling. …
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
BACKGROUND: Variants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadly been defined. ...Massive …
BACKGROUND: Variants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and …
From vision to cognition: potential contributions of cerebral visual impairment to neurodevelopmental disorders.
Chokron S, Dutton GN. Chokron S, et al. J Neural Transm (Vienna). 2023 Mar;130(3):409-424. doi: 10.1007/s00702-022-02572-8. Epub 2022 Dec 22. J Neural Transm (Vienna). 2023. PMID: 36547695 Review.
Although ocular disorders are well known, diagnosed and taken into account, cerebral visual impairments (CVI) resulting from post-chiasmatic damage are largely underdiagnosed. ...In this article, we focus on the role of the possible effects of CVI on a child's learn …
Although ocular disorders are well known, diagnosed and taken into account, cerebral visual impairments (CVI) resulting from p …
Visual function in autism spectrum disorders: a critical review.
Bakroon A, Lakshminarayanan V. Bakroon A, et al. Clin Exp Optom. 2016 Jul;99(4):297-308. doi: 10.1111/cxo.12383. Epub 2016 May 10. Clin Exp Optom. 2016. PMID: 27161596 Free article. Review.
Studies have shown considerable evidence of visual dysfunction in autism spectrum disorders. Anomalies in visual information processing can have a major effect on the life quality of individuals with autism spectrum disorders. ...In particular, …
Studies have shown considerable evidence of visual dysfunction in autism spectrum disorders. Anomalies in visual …
Anomalies of face and brain.
Pruzansky S. Pruzansky S. Birth Defects Orig Artic Ser. 1975;11(7):183-204. Birth Defects Orig Artic Ser. 1975. PMID: 813793 Review.
The forming head is a community of interrelated cells, tissues and complex organs. Anomalies of the craniofacial complex constitute a special category of birth defects because they involve several organ systems and functions including the central nervous system, upp …
The forming head is a community of interrelated cells, tissues and complex organs. Anomalies of the craniofacial complex constitute a …
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Efthymiou S, Dutra-Clarke M, Maroofian R, Kaiyrzhanov R, Scala M, Reza Alvi J, Sultan T, Christoforou M, Tuyet Mai Nguyen T, Mankad K, Vona B, Rad A, Striano P, Salpietro V, Guillen Sacoto MJ, Zaki MS, Gleeson JG, Campeau PM, Russell BE, Houlden H. Efthymiou S, et al. Epilepsia. 2021 Feb;62(2):e35-e41. doi: 10.1111/epi.16801. Epub 2021 Jan 7. Epilepsia. 2021. PMID: 33410539 Free PMC article.
All individuals presented with hypotonia, severe global developmental delay, microcephaly, intractable early infantile epilepsy, and structural brain abnormalities. Additional findings include vision impairment, hearing loss, renal malformation, and hypotonic …
All individuals presented with hypotonia, severe global developmental delay, microcephaly, intractable early infantile epilepsy, and structu …
Deep psychophysiological phenotyping of adolescents and adults with 22q11.2 deletion syndrome: a multilevel approach to defining core disease processes.
Parker DA, Cubells JF, Imes SL, Ruban GA, Henshey BT, Massa NM, Walker EF, Duncan EJ, Ousley OY. Parker DA, et al. BMC Psychiatry. 2023 Jun 13;23(1):425. doi: 10.1186/s12888-023-04888-5. BMC Psychiatry. 2023. PMID: 37312091 Free PMC article.
Affected individuals exhibit variable clinical phenotypes that can include velopharyngeal anomalies, heart defects, T-cell-related immune deficits, dysmorphic facial features, neurodevelopmental disorders, including autism, early cognitive decline, sch …
Affected individuals exhibit variable clinical phenotypes that can include velopharyngeal anomalies, heart defects, T-cell-rel …
Thalidomide and misoprostol: Ophthalmologic manifestations and associations both expected and unexpected.
Miller MT, Ventura L, Strömland K. Miller MT, et al. Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):667-76. doi: 10.1002/bdra.20609. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19639653 Review.
Thalidomide is a very potent teratogen capable of causing severe systemic malformations if the fetus is exposed during the sensitive period. Although structural anomalies of the eye can occur from thalidomide exposure, the most frequent eye complication is secondary to dam …
Thalidomide is a very potent teratogen capable of causing severe systemic malformations if the fetus is exposed during the sensitive period. …
The syndrome of optic nerve hypoplasia.
Borchert M, Garcia-Filion P. Borchert M, et al. Curr Neurol Neurosci Rep. 2008 Sep;8(5):395-403. doi: 10.1007/s11910-008-0061-7. Curr Neurol Neurosci Rep. 2008. PMID: 18713575 Review.
The congenital malformation known as optic nerve hypoplasia (ONH) has been recognized in the past 30 years as an epidemic cause of congenital blindness. It was believed to occur either as an isolated anomaly or as a component of the syndrome of septo-optic dysplasia, which …
The congenital malformation known as optic nerve hypoplasia (ONH) has been recognized in the past 30 years as an epidemic cause of congenita …
82 results