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Page 1
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R. Marszałek-Kruk BA, et al. Genes (Basel). 2021 Sep 9;12(9):1392. doi: 10.3390/genes12091392. Genes (Basel). 2021. PMID: 34573374 Free PMC article. Review.
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly …
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring duri …
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738
Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic criteria for KS, particularly when molecular genetic testing is equivocal. ...Further criteria for a probable and possible diagnosis, includi …
Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic c …
A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.
Shangguan H, Wang J, Lin J, Huang X, Zeng Y, Chen R. Shangguan H, et al. Eur J Pediatr. 2024 Mar;183(3):1403-1414. doi: 10.1007/s00431-023-05385-3. Epub 2024 Jan 3. Eur J Pediatr. 2024. PMID: 38170291
These MDEMs exhibit phenotypic overlap broadly characterized by multiorgan abnormalities. The variant detected in genes associated with epigenetic modification can lead to short stature accompanied with multiple system abnormalities. ...Additionally, several associa …
These MDEMs exhibit phenotypic overlap broadly characterized by multiorgan abnormalities. The variant detected in genes associated wi …
Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
Marszałek-Kruk BA, Myśliwiec A, Lipowicz A, Wolański W, Kulesa-Mrowiecka M, Dowgierd K. Marszałek-Kruk BA, et al. Genes (Basel). 2023 Dec 24;15(1):29. doi: 10.3390/genes15010029. Genes (Basel). 2023. PMID: 38254920 Free PMC article. Review.
Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrognathia, and anky …
Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpeb …
Fetal alcohol spectrum disorders - diagnostic difficulties in the neonatal period and new diagnostic approaches.
Jańczewska I, Wierzba J, Cichoń-Kotek M, Jańczewska A. Jańczewska I, et al. Dev Period Med. 2019;23(1):60-66. doi: 10.34763/devperiodmed.20192301.6066. Dev Period Med. 2019. PMID: 30954983 Free PMC article. Review.
Diagnosis of fetal alcohol syndrome is based on the appearance of growth deficiency, the presence of the three key features of facial dysmorphism (short palpebral fissures, thin upper lip, smooth or flattend philtrum) and/or disorders in the central nervous system ( …
Diagnosis of fetal alcohol syndrome is based on the appearance of growth deficiency, the presence of the three key features of facial dysmor …
Workflow and treatment results for computer-aided design and 3D-printed conformer therapy of congenital anophthalmia and microphthalmia.
Groot ALW, Remmers JS, Lissenberg-Witte BI, de Meulenaere STJ, Talan D, Liberton NPTJ, de Graaf P, Moll AC, Saeed P, Hartong DT. Groot ALW, et al. Br J Ophthalmol. 2023 Sep;107(9):1239-1245. doi: 10.1136/bjophthalmol-2021-320882. Epub 2022 Apr 27. Br J Ophthalmol. 2023. PMID: 35477668
BACKGROUND/AIMS: To evaluate treatment with custom, three-dimensional (3D) printed conformers for socket expansion in congenital microphthalmia and anophthalmia (MICA). METHODS: Retrospective analysis of prospective cohort from 2016 to 2020. ...We measured height, width, t …
BACKGROUND/AIMS: To evaluate treatment with custom, three-dimensional (3D) printed conformers for socket expansion in congenital micr …
Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.
Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V. Mahmoud R, et al. Clin Genet. 2021 Jul;100(1):29-39. doi: 10.1111/cge.13947. Epub 2021 Mar 13. Clin Genet. 2021. PMID: 33615449 Free PMC article.
The effect of growth hormone (GH) treatment on growth and dysmorphic features was compared. Among participants, upslanting palpebral fissures were seen in 23%; strabismus in 42%; abnormal dentition in 32%; small hands in 63% and small feet in 70%; hypopigment …
The effect of growth hormone (GH) treatment on growth and dysmorphic features was compared. Among participants, upslanting palpebral …
Neonatal diagnosis of Down syndrome in The Netherlands: suspicion and communication with parents.
de Groot-van der Mooren MD, Gemke RJ, Cornel MC, Weijerman ME. de Groot-van der Mooren MD, et al. J Intellect Disabil Res. 2014 Oct;58(10):953-61. doi: 10.1111/jir.12125. Epub 2014 Mar 14. J Intellect Disabil Res. 2014. PMID: 24628769
Most recognised dysmorphic features in DS newborns were 'upslanted palpebral fissures' (74.1%; n = 426), 'hypotonia' (73.7%; n = 424) and 'epicanthic folds' (68.5%; n = 394). ...CONCLUSION: DS is still often diagnosed after birth, usually on the first day of postnat …
Most recognised dysmorphic features in DS newborns were 'upslanted palpebral fissures' (74.1%; n = 426), 'hypotonia' (73.7%; n …
Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature.
Butnariu L, Rusu C, Caba L, Pânzaru M, Braha E, Grămescu M, Popescu R, Bujoranu C, Gorduza EV. Butnariu L, et al. Rev Med Chir Soc Med Nat Iasi. 2013 Jul-Sep;117(3):714-21. Rev Med Chir Soc Med Nat Iasi. 2013. PMID: 24502039 Review.
RESULTS: Clinical signs detected in patients with homogeneous trisomy X 47,XXX (22.22%), mosaic 46,XX/47,XXX (16.66%) or 47,XXX/48,XXXX (5.55%) were prepubertal, growth retardation associated with dysmorphic facial (upslanted palpebral fissure, epichantus, thin lips …
RESULTS: Clinical signs detected in patients with homogeneous trisomy X 47,XXX (22.22%), mosaic 46,XX/47,XXX (16.66%) or 47,XXX/48,XXXX (5.5 …
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li W, Mei L, Chen H, Cai X, Liu Y, Men M, Liu XZ, Yan D, Ling J, Feng Y. Li W, et al. Neural Plast. 2019 Feb 27;2019:7143458. doi: 10.1155/2019/7143458. eCollection 2019. Neural Plast. 2019. PMID: 30936914 Free PMC article.
Freckles occur only in WS type 2. Yellow hair, amblyopia, congenital ptosis, narrow palpebral fissures, and pigmentation spots are rare and unique symptoms in WS patients from China. ...
Freckles occur only in WS type 2. Yellow hair, amblyopia, congenital ptosis, narrow palpebral fissures, and pigmentatio …
16 results