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1992 1
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2018 1
2023 2
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Trihexyphenidyl for dystonia in cerebral palsy.
Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K. Harvey AR, et al. Cochrane Database Syst Rev. 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. Cochrane Database Syst Rev. 2018. PMID: 29763510 Free PMC article. Review.
BACKGROUND: Cerebral palsy occurs in up to 2.1 of every 1000 live births and encompasses a range of motor problems and movement disorders. One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscl …
BACKGROUND: Cerebral palsy occurs in up to 2.1 of every 1000 live births and encompasses a range of motor problems and movement disor …
Recurrent hypokalemic paralysis in hypothyroidism.
Singh J, Dinkar A, Kumar N, Kumar K. Singh J, et al. Am J Med Sci. 2023 May;365(5):462-469. doi: 10.1016/j.amjms.2023.01.009. Epub 2023 Feb 6. Am J Med Sci. 2023. PMID: 36754148 Review.
We report the case details and clinical outcomes of two middle-aged individuals (a 34-year-old male and a 37-year-old female) with recurrent episodes of hypokalemic paralysis. Their clinical examination revealed pure motor hyporeflexia quadriparesis with hypotonia a …
We report the case details and clinical outcomes of two middle-aged individuals (a 34-year-old male and a 37-year-old female) with recurrent …
Feeding and swallowing dysfunction in genetic syndromes.
Cooper-Brown L, Copeland S, Dailey S, Downey D, Petersen MC, Stimson C, Van Dyke DC. Cooper-Brown L, et al. Dev Disabil Res Rev. 2008;14(2):147-57. doi: 10.1002/ddrr.19. Dev Disabil Res Rev. 2008. PMID: 18646013 Review.
For example, a child with Pierre Robin sequence may be unable to successfully feed orally, initially, due to micrognathia and glossoptosis. Oral-motor dysfunction may develop as a result of both anatomical problems, (e.g., cleft lip/palate), lack of experience (e.g. …
For example, a child with Pierre Robin sequence may be unable to successfully feed orally, initially, due to micrognathia and glossoptosis. …
The chromosome 9q subtelomere deletion syndrome.
Stewart DR, Kleefstra T. Stewart DR, et al. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):383-92. doi: 10.1002/ajmg.c.30148. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910072 Review.
There are about 50 reported cases worldwide. Affected individuals invariably have severe hypotonia with speech and gross motor delay. The facial gestalt is distinct and features absolute or relative micro- or brachycephaly, hypertelorism, synophrys, and/or arched ey …
There are about 50 reported cases worldwide. Affected individuals invariably have severe hypotonia with speech and gross motor …
De novo microdeletion of BCL11A is associated with severe speech sound disorder.
Peter B, Matsushita M, Oda K, Raskind W. Peter B, et al. Am J Med Genet A. 2014 Aug;164A(8):2091-6. doi: 10.1002/ajmg.a.36599. Epub 2014 May 8. Am J Med Genet A. 2014. PMID: 24810580 Review.
In 10 cases of 2p15p16.1 microdeletions reported worldwide to date, shared phenotypes included growth retardation, craniofacial and skeletal dysmorphic traits, internal organ defects, intellectual disability, nonverbal or low verbal status, abnormal muscle tone, and gross …
In 10 cases of 2p15p16.1 microdeletions reported worldwide to date, shared phenotypes included growth retardation, craniofacial and skeletal …
[A case of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures caused by PHF21A gene variation and review of literature].
Wu F, Ji XN, Shen MX, Gao YY, Zhang PP, Li SP, Chen Q. Wu F, et al. Zhonghua Er Ke Za Zhi. 2023 Aug 2;61(8):726-730. doi: 10.3760/cma.j.cn112140-20230221-00118. Zhonghua Er Ke Za Zhi. 2023. PMID: 37528014 Review. Chinese.
Results: An 8 months of age boy showed overgrowth (height, weight and head circumference were all higher than the 97(th) percentile of children of the same age and sex) and language and motor developmental delay after birth, and gradually showed autism-like symptoms like s …
Results: An 8 months of age boy showed overgrowth (height, weight and head circumference were all higher than the 97(th) percentile of child …
Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.
Schaap C, Schrander-Stumpel CT, Fryns JP. Schaap C, et al. Genet Couns. 1992;3(4):209-15. Genet Couns. 1992. PMID: 1472356 Review.
The first patient has the Opitz-"C"-trigonocephaly syndrome. The second patient had initially a delayed motor development, but finally attained normal intelligence. A review of 22 patients with Opitz-C syndrome from the literature is presented. Most of the typical facial d …
The first patient has the Opitz-"C"-trigonocephaly syndrome. The second patient had initially a delayed motor development, but finall …