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Williams-Beuren syndrome in diverse populations.
Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M. Kruszka P, et al. Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672. Am J Med Genet A. 2018. PMID: 29681090 Free PMC article.
Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matc …
Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using …
Orbital manifestations of Noonan syndrome.
Randolph JC, Sokol JA, Lee HB, Nunery WR. Randolph JC, et al. Ophthalmic Plast Reconstr Surg. 2011 Nov-Dec;27(6):e160-3. doi: 10.1097/IOP.0b013e318209976c. Ophthalmic Plast Reconstr Surg. 2011. PMID: 21464791
External ocular findings include hypertelorism, ptosis, epicanthal folds, antimongoloid slant, downward-sloping palpebral fissures, and malar flattening. In this case series and review of the literature, the authors present 2 cases of Noonan syndrome that embody the …
External ocular findings include hypertelorism, ptosis, epicanthal folds, antimongoloid slant, downward-sloping palpebral fissures, and m …
Three rare disease diagnoses in one patient through exome sequencing.
Ferrer A, Schultz-Rogers L, Kaiwar C, Kemppainen JL, Klee EW, Gavrilova RH. Ferrer A, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004390. doi: 10.1101/mcs.a004390. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31427378 Free PMC article.
Her distinctive features included prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, and oligodontia. Family history was notable for dry skin in her mother and missing teeth in the paternal grandmother. ...
Her distinctive features included prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flatten …
The spectrum of clinical features in CHARGE syndrome.
Davenport SL, Hefner MA, Mitchell JA. Davenport SL, et al. Clin Genet. 1986 Apr;29(4):298-310. doi: 10.1111/j.1399-0004.1986.tb01258.x. Clin Genet. 1986. PMID: 2424647
In addition to acronymic features of Coloboma, Heart disease, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies, other important diagnostic features include facial paralysis and feeding problems suggestive of velopharyngeal incompetenc …
In addition to acronymic features of Coloboma, Heart disease, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, a …
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.
Cousin MA, Zimmermann MT, Mathison AJ, Blackburn PR, Boczek NJ, Oliver GR, Lomberk GA, Urrutia RA, Deyle DR, Klee EW. Cousin MA, et al. Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4):a001727. doi: 10.1101/mcs.a001727. Print 2017 Jul. Cold Spring Harb Mol Case Stud. 2017. PMID: 28679693 Free PMC article.
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.
Muirhead KJ, Clause AR, Schlachetzki Z, Dubbs H, Perry DL, Hagelstrom RT, Taft RJ, Vanderver A. Muirhead KJ, et al. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006143. doi: 10.1101/mcs.a006143. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34737199 Free PMC article.
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S. Bartholdi D, et al. Am J Med Genet A. 2014 May;164A(5):1277-83. doi: 10.1002/ajmg.a.36439. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664804 Free article.
In addition, they had pronounced feeding difficulties in early infancy. They displayed similar facial features such as malar flattening, a prominent nose with underdeveloped alae nasi, a smooth philtrum, and a thin vermillion of the upper lip. ...
In addition, they had pronounced feeding difficulties in early infancy. They displayed similar facial features such as malar flatt …