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Quoted phrase not found in phrase index: "Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"
Page 1
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. Almannai M, et al. Clin Genet. 2022 May;101(5-6):530-540. doi: 10.1111/cge.14132. Epub 2022 Apr 12. Clin Genet. 2022. PMID: 35322404 Free PMC article.
Six different variants in WDR45B were identified, five of which are novel. Microcephaly and global developmental delay were observed in all subjects, and seizures and spastic quadriplegia in most. Common findings on brain imaging include cerebral atrophy, ex vacuo v …
Six different variants in WDR45B were identified, five of which are novel. Microcephaly and global developmental delay were observed …
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.
Kurosawa K, Enomoto K, Tominaga M, Furuya N, Sameshima K, Iai M, Take H, Shinkai M, Ishikawa H, Yamanaka M, Matsui K, Masuno M. Kurosawa K, et al. Congenit Anom (Kyoto). 2012 Jun;52(2):78-81. doi: 10.1111/j.1741-4520.2012.00357.x. Congenit Anom (Kyoto). 2012. PMID: 22639992
During a study period of nine years, we found three patients with severe spastic quadriplegia among 20 cases with Down syndrome and congenital duodenal stenosis/atresia (3/20). ...Our results suggest that congenital duodenal stenosis/atresia is a poten …
During a study period of nine years, we found three patients with severe spastic quadriplegia among 20 cases with Down syndrome …
A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.
Wang C, He G, Ge Y, Li R, Li Z, Lin Y. Wang C, et al. Mol Genet Genomic Med. 2020 Jun;8(6):e1235. doi: 10.1002/mgg3.1235. Epub 2020 Apr 7. Mol Genet Genomic Med. 2020. PMID: 32255274 Free PMC article. Review.
BACKGROUND: Asparagine synthetase deficiency (ASNSD) is a rare pediatric congenital disorder that clinically manifests into severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ...Software-based bioinformatics a …
BACKGROUND: Asparagine synthetase deficiency (ASNSD) is a rare pediatric congenital disorder that clinically manifests into severe pr …
Classification of Congenital Zika Syndrome: Muscle Tone, Motor Type, Body Segments Affected, and Gross Motor Function.
Tavares JS, Gama GL, Dias Borges MC, de Sousa Santos AC, Tavares JS, Amorim MMR, Melo A. Tavares JS, et al. Dev Neurorehabil. 2021 Jul;24(5):296-302. doi: 10.1080/17518423.2020.1866706. Epub 2021 Jan 3. Dev Neurorehabil. 2021. PMID: 33393410
Aim: To identify abnormalities in muscle tone and motor function associated with congenital Zika syndrome (CZS).Method: A cross-sectional observational study involving 96 children (55 males) with CZS at a mean (SD) age 35.2 2.9 months. ...Motor impairment was …
Aim: To identify abnormalities in muscle tone and motor function associated with congenital Zika syndrome (CZS).Method: A cros …
Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.
Hozhabri H, Talebi M, Mehrjardi MYV, De Luca A, Dehghani M. Hozhabri H, et al. Am J Med Genet A. 2020 May;182(5):957-961. doi: 10.1002/ajmg.a.61543. Epub 2020 Mar 12. Am J Med Genet A. 2020. PMID: 32162791
Spastic quadriplegia with contractures was observed in the male patient, while the female patient showed only mild hyperreflexia. ...The genotype and phenotype of the patients are compared with those of Martsolf syndrome and Warburg Micro syndrome pati …
Spastic quadriplegia with contractures was observed in the male patient, while the female patient showed only mild hyperreflex …
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
Abdollahpour H, Alawi M, Kortüm F, Beckstette M, Seemanova E, Komárek V, Rosenberger G, Kutsche K. Abdollahpour H, et al. Eur J Hum Genet. 2015 Feb;23(2):256-9. doi: 10.1038/ejhg.2014.73. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781758 Free PMC article.
The recently proposed adaptor protein 4 (AP-4) deficiency syndrome comprises a group of congenital neurological disorders characterized by severe intellectual disability (ID), delayed or absent speech, hereditary spastic paraplegia, and growth retardation. ...Identi …
The recently proposed adaptor protein 4 (AP-4) deficiency syndrome comprises a group of congenital neurological disorders char …
Aicardi-Goutieres syndrome: clinical and neuroradiological findings of 10 new cases.
Abdel-Salam GM, Zaki MS, Lebon P, Meguid NA. Abdel-Salam GM, et al. Acta Paediatr. 2004 Jul;93(7):929-36. doi: 10.1111/j.1651-2227.2004.tb02691.x. Acta Paediatr. 2004. PMID: 15303808
AIM: To describe the clinical and neuroimaging findings in new cases with Aicardi-Goutieres syndrome (AGS) from Egypt. METHODS: Ten patients with progressive encephalopathy, bilateral calcification of the basal ganglia and spastic quadriplegia were described. ...The …
AIM: To describe the clinical and neuroimaging findings in new cases with Aicardi-Goutieres syndrome (AGS) from Egypt. METHODS: Ten p …
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.
Lansdon LA, Bernabe HV, Nidey N, Standley J, Schnieders MJ, Murray JC. Lansdon LA, et al. J Dent Res. 2017 Oct;96(11):1339-1345. doi: 10.1177/0022034517726496. Epub 2017 Aug 21. J Dent Res. 2017. PMID: 28825856 Free PMC article.
We noted the substantial phenotypic overlap with individuals with Hartsfield syndrome, the rare combination of holoprosencephaly and ectrodactyly. Sequencing of FGFR1 identified a previously unreported de novo variant in exon 11 (p.Gly487Cys), which we modeled to determine …
We noted the substantial phenotypic overlap with individuals with Hartsfield syndrome, the rare combination of holoprosencephaly and …
Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Review of 47 cases.
Clark M, Carr L, Reilly S, Neville BG. Clark M, et al. Brain. 2000 Oct;123 ( Pt 10):2160-70. doi: 10.1093/brain/123.10.2160. Brain. 2000. PMID: 11004132
A retrospective case-note analysis was undertaken of 47 children with a congenital upper motor neurone bulbar palsy (excluding pure speech dyspraxia) to clarify the phenotype of Worster-Drought syndrome (WDS) and to record its associated features and complications. …
A retrospective case-note analysis was undertaken of 47 children with a congenital upper motor neurone bulbar palsy (excluding pure s …
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Fichera M, Failla P, Saccuzzo L, Miceli M, Salvo E, Castiglia L, Galesi O, Grillo L, Calì F, Greco D, Amato C, Romano C, Elia M. Fichera M, et al. Hum Genet. 2019 Feb;138(2):187-198. doi: 10.1007/s00439-019-01972-3. Epub 2019 Jan 17. Hum Genet. 2019. PMID: 30656450 Clinical Trial.
This variant did not segregate in the unaffected siblings in this family and was classified as deleterious by several prediction softwares. Interestingly, in both families, homozygous patients shared a rather homogeneous phenotype. ...Here, we provide additional genetic an …
This variant did not segregate in the unaffected siblings in this family and was classified as deleterious by several prediction soft …
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