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MEGDEL Syndrome.
Finsterer J, Scorza FA, Fiorini AC, Scorza CA. Finsterer J, et al. Pediatr Neurol. 2020 Sep;110:25-29. doi: 10.1016/j.pediatrneurol.2020.03.009. Epub 2020 Jul 16. Pediatr Neurol. 2020. PMID: 32684373 Review.
MEGDEL syndrome is an autosomal recessive disorder, clinically characterized by 3-methylglutaconic aciduria, psychomotor delay, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain magnetic resonance imaging. ...In addition to the brain, ears, a …
MEGDEL syndrome is an autosomal recessive disorder, clinically characterized by 3-methylglutaconic aciduria, psychomotor delay, mu …
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Albokhari D, Pritchard AB, Beil A, Muss C, Bupp C, Grange DK, Delplancq G, Heeley J, Zuteck M, Morrow MM, Kuentz P, Palculict TB, Hoover-Fong JE. Albokhari D, et al. Am J Med Genet A. 2023 May;191(5):1261-1272. doi: 10.1002/ajmg.a.63142. Epub 2023 Feb 16. Am J Med Genet A. 2023. PMID: 36797513 Review.
Affected individuals were reported to have global developmental delay, intellectual disability, microcephaly, dysmorphic facial features, ocular involvement including cortical visual impairment, strabismus, cataract and rotatory nystagmus, movement disorder, hypertonia and …
Affected individuals were reported to have global developmental delay, intellectual disability, microcephaly, dysmorphic facial features, oc …
Cerebral palsy: comprehensive review and update.
Jan MM. Jan MM. Ann Saudi Med. 2006 Mar-Apr;26(2):123-32. doi: 10.5144/0256-4947.2006.123. Ann Saudi Med. 2006. PMID: 16761450 Free PMC article. Review.
Cerebral palsy (CP) is a common pediatric disorder occurring in about 2 to 2.5 per 1000 live births. It is a chronic motor disorder resulting from a non-progressive (static) insult to the developing brain. ...This requires the provision of a number of family-centere …
Cerebral palsy (CP) is a common pediatric disorder occurring in about 2 to 2.5 per 1000 live births. It is a chronic motor disorde …
MENTAL RETARDATION: METHODS OF DIAGNOSIS AND SOME RECENTLY DESCRIBED SYNDROMES.
RICHARDS BW. RICHARDS BW. Can Med Assoc J. 1963 Nov 16;89(20):1024-9. Can Med Assoc J. 1963. PMID: 14081787 Free PMC article. Review.
A diagnosis should be as complete as possible, using available modern techniques of investigation, such as chromatography and cytogenetic studies.AMONG THE RECENTLY DESCRIBED SYNDROMES ASSOCIATED WITH MENTAL RETARDATION ARE: (1) spastic paralysis and congenital ichthyosis; …
A diagnosis should be as complete as possible, using available modern techniques of investigation, such as chromatography and cytogenetic st …
Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature.
Grosso S, Cerase A, De Stefano N, Marco LD, Galluzzi P, Galimberti D, Morgese G, Balestri P. Grosso S, et al. Brain Dev. 2005 Jan;27(1):73-7. doi: 10.1016/j.braindev.2004.04.009. Brain Dev. 2005. PMID: 15626547 Review.
We report a patient with bilateral anterior temporal lobe cystic changes associated with a non-progressive neurological disorder, microcephaly, spasticity, mental retardation, and sensorineural deafness. ...By contrast, variability in the clinical phenotype has been …
We report a patient with bilateral anterior temporal lobe cystic changes associated with a non-progressive neurological disorder, mic …
Cerebrovascular complications and neurodevelopmental sequelae of neonatal ECMO.
Graziani LJ, Gringlas M, Baumgart S. Graziani LJ, et al. Clin Perinatol. 1997 Sep;24(3):655-75. Clin Perinatol. 1997. PMID: 9394865 Review.
A total of 355 infants have been treated with ECMO at our hospital between 1985 and 1996, 271 of whom have been enrolled in an ongoing prospective study; of the 271 infants enrolled, 223 (82%) survived, and most function within the normal range of development. Nevertheless, handi …
A total of 355 infants have been treated with ECMO at our hospital between 1985 and 1996, 271 of whom have been enrolled in an ongoing prosp …