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2001 1
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Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program.
Jacobs A, Burns C, Patel P, Treat K, Helm BM, Conboy E, Vetrini F. Jacobs A, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006170. doi: 10.1101/mcs.a006170. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091507 Free PMC article.
Characterization of a recurrent 15q24 microdeletion syndrome.
Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE. Sharp AJ, et al. Hum Mol Genet. 2007 Mar 1;16(5):567-72. doi: 10.1093/hmg/ddm016. Epub 2007 Mar 14. Hum Mol Genet. 2007. PMID: 17360722
Despite the differences in the size and location of the deletions, all four individuals share several major features (growth retardation, microcephaly, digital abnormalities, hypospadias and loose connective tissue) and resemble one another facially (high anterior hair line, broa …
Despite the differences in the size and location of the deletions, all four individuals share several major features (growth retardation, mi …
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Castro MAA, Dos Santos JHV, Honjo RS, Yamamoto GL, Bertola DR, Hurst AC, Chorich LP, Layman LC, Kim CA, Kim HG. Castro MAA, et al. Am J Med Genet A. 2021 Dec;185(12):3916-3923. doi: 10.1002/ajmg.a.62454. Epub 2021 Aug 18. Am J Med Genet A. 2021. PMID: 34405946
The most consistent physical features in this disorder are facial dysmorphisms including prominent forehead, downslanted palpebral fissures, prognathism with a pointed chin, and a long and narrow face. ...
The most consistent physical features in this disorder are facial dysmorphisms including prominent forehead, downslanted palpebral …
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C, Philip N, Bartoli M, Lévy N, Krahn M, Chabrol B. Cerino M, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1277. doi: 10.1002/mgg3.1277. Epub 2020 Jun 14. Mol Genet Genomic Med. 2020. PMID: 32537934 Free PMC article.
However, additional symptoms such as mild dysmorphic features including high anterior hairline, downslanted palpebral fissures, anteverted nares, smooth philtrum with thin upper-lip, narrow mouth and microretrognathia or delayed expressive language and postna …
However, additional symptoms such as mild dysmorphic features including high anterior hairline, downslanted palpebral fissu …
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.
Van Dijck A, van der Werf IM, Reyniers E, Scheers S, Azage M, Siefkas K, Van der Aa N, Lacroix A, Rosenfeld J, Argiropoulos B, Davis K, Innes AM, Mefford HC, Mortier G, Meuwissen M, Kooy RF. Van Dijck A, et al. Eur J Med Genet. 2015 Oct;58(10):503-8. doi: 10.1016/j.ejmg.2015.08.004. Epub 2015 Aug 29. Eur J Med Genet. 2015. PMID: 26327614
Facial features common to all patients include a high, broad forehead; a flat and broad nasal bridge; long, downslanted palpebral fissures and dysplastic, low-set ears. Likely associated features include macrocephaly and increased weight. ...
Facial features common to all patients include a high, broad forehead; a flat and broad nasal bridge; long, downslanted palpebral …
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.
Yang Q, Ou S, Zhou X, Yi S, Lin L, Yi S, Zhang S, Qin Z, Luo J. Yang Q, et al. Mol Genet Genomic Med. 2024 Feb;12(2):e2408. doi: 10.1002/mgg3.2408. Mol Genet Genomic Med. 2024. PMID: 38404251 Free PMC article.
The clinical features of the patients were DD/ID, delayed speech, ADHD, behavioral abnormalities, short stature, low body weight, cafe-au-lait spots, metabolic abnormalities, and facial dysmorphism including coarse facial features, sparse hair, frontal bossing, hypertelorism, amb …
The clinical features of the patients were DD/ID, delayed speech, ADHD, behavioral abnormalities, short stature, low body weight, cafe-au-la …
Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood?
Nokelainen P, Heiskala H, Raininko R, Autti T, Wirtavuori K, Häkkinen AM, Flint J. Nokelainen P, et al. Am J Med Genet. 2001 Oct 15;103(3):198-206. doi: 10.1002/ajmg.1536.abs. Am J Med Genet. 2001. PMID: 11745991
Two brothers with severe mental retardation of unknown origin were found to share several physical anomalies, including large round head, small concave nose, downslanted palpebral fissures, and gingival hyperplasia. In addition to relative macrocephaly, magne …
Two brothers with severe mental retardation of unknown origin were found to share several physical anomalies, including large round head, sm …