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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities"
Page 1
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW. Magoulas PL, et al. Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Orphanet J Rare Dis. 2012. PMID: 22216833 Free PMC article. Review.
Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. Other less frequent findings include hearing loss, growth hormone deficiency, hernias, and …
Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior p …
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR. Seltzer LE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Am J Med Genet C Semin Med Genet. 2014. PMID: 24839169 Review.
These disorders can be identified clinically by phenotyping across multiple neurodevelopmental and neurobehavioral realms, and enough data are available to recognize these postnatal microcephaly disorders as separate diagnostic entities in their own right. .. …
These disorders can be identified clinically by phenotyping across multiple neurodevelopmental and neurobehavioral realms, and …
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
BACKGROUND: KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. ...We found no c …
BACKGROUND: KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distincti …
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Awamleh Z, Choufani S, Cytrynbaum C, Alkuraya FS, Scherer S, Fernandes S, Rosas C, Louro P, Dias P, Neves MT, Sousa SB, Weksberg R. Awamleh Z, et al. Hum Mol Genet. 2023 Apr 20;32(9):1429-1438. doi: 10.1093/hmg/ddac289. Hum Mol Genet. 2023. PMID: 36440975 Free PMC article.
Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies. The ANKRD11 gene encodes the an …
Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome chara …
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, Sugahara K, Davis EE, Yamada S, Vodopiutz J. Mizumoto S, et al. Hum Mutat. 2020 Mar;41(3):655-667. doi: 10.1002/humu.23952. Epub 2019 Dec 3. Hum Mutat. 2020. PMID: 31705726 Free PMC article.
Congenital disorders of glycosylation (CDGs) comprise a large number of inherited metabolic defects that affect the biosynthesis and attachment of glycans. CDGs manifest as a broad spectrum of disease, most often including neurodevelopmental and skeletal …
Congenital disorders of glycosylation (CDGs) comprise a large number of inherited metabolic defects that affect the biosynthes …
Witteveen-Kolk syndrome: The first patient from Turkey.
Ercoskun P, Yuce Kahraman C. Ercoskun P, et al. Am J Med Genet A. 2021 Feb;185(2):617-619. doi: 10.1002/ajmg.a.61950. Epub 2020 Nov 3. Am J Med Genet A. 2021. PMID: 33142042
Witteveen-Kolk syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay and dysmorphic facial features including a long face with prominent forehead, depressed nasal bridge, long-smooth philtrum and malformed ears. …
Witteveen-Kolk syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay and dysmorphic …
The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series.
Conway KS, Ghafoor F, Gottschalk AC, Laakman J, Eigsti RL, Nashelsky M, Blau J, Hefti MM. Conway KS, et al. J Neuropathol Exp Neurol. 2021 Sep 27;80(9):856-860. doi: 10.1093/jnen/nlab072. J Neuropathol Exp Neurol. 2021. PMID: 34363665 Free PMC article.
1p36 deletion syndrome is the most common terminal deletion syndrome, manifesting clinically as abnormal facies and developmental delay with frequent cardiac, skeletal, urogenital, and renal abnormalities. ...Our series consists of 3 patients: 2 infant …
1p36 deletion syndrome is the most common terminal deletion syndrome, manifesting clinically as abnormal facies and developmen …
Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome.
Melo Gomes S, Dias C, Omoyinmi E, Compeyrot-Lacassagne S, Klein N, Sebire NJ, Brogan P. Melo Gomes S, et al. Pediatrics. 2019 Jul;144(1):e20181741. doi: 10.1542/peds.2018-1741. Pediatrics. 2019. PMID: 31243159
With synovial biopsy, we confirmed a chronic inflammatory synovitis. Brain MRI revealed dysgenesis of the corpus callosum. Treatment with methotrexate and, subsequently, etanercept led to significant clinical improvement. ...We propose that some patients with CSS may have …
With synovial biopsy, we confirmed a chronic inflammatory synovitis. Brain MRI revealed dysgenesis of the corpus callosum. Treatment …
A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
Chen J, Xia Z, Zhou Y, Ma X, Wang X, Guo Q. Chen J, et al. BMC Med Genomics. 2021 Mar 2;14(1):68. doi: 10.1186/s12920-021-00920-3. BMC Med Genomics. 2021. PMID: 33653342 Free PMC article.
The patient was diagnosed as KBG syndrome with a short stature and developmental delay, as well as characteristic craniofacial abnormalities, including a triangular face, long philtrum, wide eyebrows, a broad nasal bridge, prominent and protruding ears, macrodontia …
The patient was diagnosed as KBG syndrome with a short stature and developmental delay, as well as characteristic craniofacial abnormalit …
A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy.
Kim SY, Kim MJ, Kim SJ, Lee JE, Chae JH, Ko JM. Kim SY, et al. Brain Dev. 2021 Mar;43(3):454-458. doi: 10.1016/j.braindev.2020.11.004. Epub 2020 Nov 26. Brain Dev. 2021. PMID: 33248856
BACKGROUND: CHOPS syndrome, caused by a mutation in the AFF4 gene, is a recently established and extremely rare genetic disorder, which has moderate phenotypic overlap with Cornelia de Lange syndrome. The main phenotypes include characteristic facial features, short statur …
BACKGROUND: CHOPS syndrome, caused by a mutation in the AFF4 gene, is a recently established and extremely rare genetic disorder, whi …
21 results