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[Advance of research on Phelan-McDermid syndrome].
Li S, Xi K, Liu T, Zhang Y, Li J. Li S, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):917-920. doi: 10.3760/cma.j.cn511374-20200410-00251. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34487544 Review. Chinese.
Phelan-McDermid syndrome (PMS)(OMIM#606232) is a rare genetic disorder caused by a deletion of the distal long arm of chromosome 22q13 involving a variety of clinical features with considerably heterogeneous degrees of severity. This syndrome is characterized by global …
Phelan-McDermid syndrome (PMS)(OMIM#606232) is a rare genetic disorder caused by a deletion of the distal long arm of chromosome 22q13 invol …
Esophageal atresia in patients with anorectal malformations.
Fernandez E, Bischoff A, Dickie BH, Frischer J, Hall J, Peña A. Fernandez E, et al. Pediatr Surg Int. 2014 Aug;30(8):767-71. doi: 10.1007/s00383-014-3531-9. Epub 2014 Jul 4. Pediatr Surg Int. 2014. PMID: 24993283 Review.
EA patients had a significantly higher incidence of tethered cord (32.3 vs. 17.6 %), cardiac anomalies (32.3 vs. 22.5 %) including VSD (12.5 vs. 4.5 %), hydronephrosis (36.5 vs. 15.4 %), absent kidney (26.3 vs. 10.5 %), duodenal atresia (7.7 vs. 1.7 %), vertebral anomalies …
EA patients had a significantly higher incidence of tethered cord (32.3 vs. 17.6 %), cardiac anomalies (32.3 vs. 22.5 %) including VSD (12.5 …
A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review.
Zhang J, Lu Y, Tian X, Men X, Zhang Y, Yan H, Yang F, Yang Z, Wang X. Zhang J, et al. Mol Genet Genomic Med. 2022 Oct;10(10):e2036. doi: 10.1002/mgg3.2036. Epub 2022 Aug 13. Mol Genet Genomic Med. 2022. PMID: 35962600 Free PMC article. Review.
BACKGROUND: Global developmental delay (GDD) has a heterogeneous clinical profile among patients, accounting for approximately 1%-3% of cases in children. ...Arg226Thr)] was identified from the proband. The variant was absent in published databases suc …
BACKGROUND: Global developmental delay (GDD) has a heterogeneous clinical profile among patients, accounting for approx …
Neurological aspects of the Angelman syndrome.
Williams CA. Williams CA. Brain Dev. 2005 Mar;27(2):88-94. doi: 10.1016/j.braindev.2003.09.014. Brain Dev. 2005. PMID: 15668046 Review.
In infancy, nonspecific clinical features of AS pose diagnostic challenges to the neurologist and these include any combination of microcephaly, seizure disorder, global developmental delay or an ataxic/hypotonic cerebral palsy-like picture. In later childhoo …
In infancy, nonspecific clinical features of AS pose diagnostic challenges to the neurologist and these include any combination of microceph …
A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?
Türay S, Eröz R, Başak AN. Türay S, et al. Neurogenetics. 2021 May;22(2):127-132. doi: 10.1007/s10048-021-00643-8. Epub 2021 Apr 28. Neurogenetics. 2021. PMID: 33909173 Review.
AGTPBP-related neurodegeneration is a severe neurodevelopmental disorder that progresses with global developmental delay and intellectual disability, often accompanied with peripheral nerve damage and lower motor degeneration and a fatal course in the early y …
AGTPBP-related neurodegeneration is a severe neurodevelopmental disorder that progresses with global developmental delay …
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.
Upadia J, Gonzales PR, Atkinson TP, Schroeder HW, Robin NH, Rudy NL, Mikhail FM. Upadia J, et al. Am J Med Genet A. 2018 Dec;176(12):2791-2797. doi: 10.1002/ajmg.a.40492. Epub 2018 Sep 14. Am J Med Genet A. 2018. PMID: 30216695 Review.
PMS is typically characterized by intellectual disability, autism spectrum disorder, absent to severely delayed speech, neonatal hypotonia, and dysmorphic features. ...Here, we describe a 13-month-old girl with a de novo 1.16 Mb interstitial deletion in the 2 …
PMS is typically characterized by intellectual disability, autism spectrum disorder, absent to severely delayed speech, neonat …
Fryns syndrome: a new definition.
Pinar H, Carpenter MW, Abuelo D, Singer DB. Pinar H, et al. Pediatr Pathol. 1994 May-Jun;14(3):467-78. doi: 10.3109/15513819409024276. Pediatr Pathol. 1994. PMID: 8066003 Review.
As originally described, the major diagnostic criteria included abnormal facies; small thorax with widely spaced, hypoplastic nipples; distal limb and nail hypoplasia; and diaphragmatic hernia with pulmonary hypoplasia. ...Although for 16 of the 41 published cases t …
As originally described, the major diagnostic criteria included abnormal facies; small thorax with widely spaced, hypoplastic …
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B. Torgyekes E, et al. Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744488 Review.
We report on two patients with overlapping small interstitial deletions involving regions 14q12 to 14q13.1. Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including abnormal spacing of the eyes, epican …
We report on two patients with overlapping small interstitial deletions involving regions 14q12 to 14q13.1. Both children had severe deve …
Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male.
Ishmael HA, Begleiter ML, Regier EJ, Butler MG. Ishmael HA, et al. Am J Med Genet. 2002 Jan 15;107(2):169-73. doi: 10.1002/ajmg.10120. Am J Med Genet. 2002. PMID: 11807893 Free PMC article. Review.
His malformations included a left pre-auricular skin tag, severely hypoplastic right pinna without an external canal, severely everted and hypoplastic left upper eyelid, bilateral cleft lip and palate, bifid broad nasal tip, ocular hypertelorism, micrognathia, hy …
His malformations included a left pre-auricular skin tag, severely hypoplastic right pinna without an external canal, severely everte …
Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.
Abidi KT, Kamal NM, Bakkar AA, Almarri S, Abdullah R, Alsufyani M, Alharbi A. Abidi KT, et al. Medicine (Baltimore). 2020 Oct 23;99(43):e22302. doi: 10.1097/MD.0000000000022302. Medicine (Baltimore). 2020. PMID: 33120733 Free PMC article. Review.
RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developm …
RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by ag …
17 results