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Page 1
Feeding problems and gastrointestinal diseases in Down syndrome.
Ravel A, Mircher C, Rebillat AS, Cieuta-Walti C, Megarbane A. Ravel A, et al. Arch Pediatr. 2020 Jan;27(1):53-60. doi: 10.1016/j.arcped.2019.11.008. Epub 2019 Nov 26. Arch Pediatr. 2020. PMID: 31784293 Review.
RESULTS: The anomalies are grouped into three categories: anatomical anomalies: duodenal atresia and stenosis (3.9%), duodenal web and annular pancreas; aberrant right subclavian artery (12% of children with DS with cardiac anomaly); Hirschsprung's disease (2.76%); anorectal malf …
RESULTS: The anomalies are grouped into three categories: anatomical anomalies: duodenal atresia and stenosis (3.9%), duodenal web and annul …
Loeys-Dietz syndrome.
Van Laer L, Dietz H, Loeys B. Van Laer L, et al. Adv Exp Med Biol. 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. Adv Exp Med Biol. 2014. PMID: 24443023 Review.
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. ...
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical …
Transforming growth factor β signaling perturbation in the Loeys-Dietz syndrome.
Pezzini A, Del Zotto E, Giossi A, Volonghi I, Costa P, Padovani A. Pezzini A, et al. Curr Med Chem. 2012;19(3):454-60. doi: 10.2174/092986712803414286. Curr Med Chem. 2012. PMID: 22335518 Review.
The extreme of clinical severity is represented by the Loeys-Dietz syndrome (LDS), an autosomal dominant disorder characterized by hypertelorism, bifid uvula, and/or cleft palate, and aggressive arteriopathy causing arterial tortuosity as well as life-threatening co …
The extreme of clinical severity is represented by the Loeys-Dietz syndrome (LDS), an autosomal dominant disorder characterized by hypertelo …
The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review.
Rojare C, Opdenakker Y, Laborde A, Nicot R, Mention K, Ferri J. Rojare C, et al. Int Orthod. 2019 Jun;17(2):375-383. doi: 10.1016/j.ortho.2019.03.020. Epub 2019 Apr 17. Int Orthod. 2019. PMID: 31005410 Review.
The dento-maxillofacial symptoms consist of crowded teeth, widely spaced incisors, oligodontia, polydontia, premature tooth eruption, enamel hypoplasia, a bifid uvula, broad alveolar ridges, bifid tongue, and Pierre-Robin syndrome symptoms (glossoptosis, retr …
The dento-maxillofacial symptoms consist of crowded teeth, widely spaced incisors, oligodontia, polydontia, premature tooth eruption, enamel …
Familial Gordon syndrome associated with a PIEZO2 mutation.
Alisch F, Weichert A, Kalache K, Paradiso V, Longardt AC, Dame C, Hoffmann K, Horn D. Alisch F, et al. Am J Med Genet A. 2017 Jan;173(1):254-259. doi: 10.1002/ajmg.a.37997. Epub 2016 Oct 7. Am J Med Genet A. 2017. PMID: 27714920 Review.
Here, we present a family with three affected individuals exhibiting multiple contractures (metacarpo-phalangeal and interphalangeal joints as well as elbow, shoulder, knee, and ankle joints), clubfeet, short stature, bifid uvula/cleft palate, and a distinct facial …
Here, we present a family with three affected individuals exhibiting multiple contractures (metacarpo-phalangeal and interphalangeal joints …
Importance of muscle movement for normal craniofacial development.
Hall JG. Hall JG. J Craniofac Surg. 2010 Sep;21(5):1336-8. doi: 10.1097/SCS.0b013e3181ebcd4f. J Craniofac Surg. 2010. PMID: 20818259 Review.
Lack of craniofacial muscle contractions may lead to ocular hypertelorism, flat zygoma and midface, high bridge of the nose, depressed tip of the nose, small and open mouth, trismus, microretrognathia, small tongue, and abnormal palate (high arch, bifid uvula, submu …
Lack of craniofacial muscle contractions may lead to ocular hypertelorism, flat zygoma and midface, high bridge of the nose, depressed tip o …
Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.
Tian WT, Luan XH, Zhou HY, Zhang C, Huang XJ, Liu XL, Chen SD, Tang HD, Cao L. Tian WT, et al. Neuromuscul Disord. 2019 Apr;29(4):282-289. doi: 10.1016/j.nmd.2019.01.001. Epub 2019 Jan 6. Neuromuscul Disord. 2019. PMID: 30737079 Review.
Here we report a 49-year-old man with exercise-induced fatigue and pain of muscle, tachypnea, cleft palate and bifid uvula. Exercise induced elevation of serum creatine kinase (CK), ammonia and lactic acid was recorded. ...
Here we report a 49-year-old man with exercise-induced fatigue and pain of muscle, tachypnea, cleft palate and bifid uvula. Ex …
Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature.
Xefteris A, Sekerli E, Arampatzi A, Charisiou S, Oikonomidou E, Efstathiou G, Peroulis N, Malamidou A, Tsoulou-Panidou E, Agakidou E, Sarafidis K, Psarakis A, Kataras T, Daskalakis G. Xefteris A, et al. Cytogenet Genome Res. 2019;159(3):109-118. doi: 10.1159/000504159. Epub 2019 Dec 10. Cytogenet Genome Res. 2019. PMID: 31816617 Review.
According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-specific atypical features such as severe retardation, absence of speech, microcephaly, retrognathia, bifid uvula, ear malforma …
According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-s …
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.
Consales A, Ardemani G, Cinnante CM, Catalano MR, Giavoli C, Villa R, Iascone M, Fontana C, Bedeschi MF, Fumagalli M. Consales A, et al. BMC Neurol. 2022 Mar 24;22(1):118. doi: 10.1186/s12883-022-02618-0. BMC Neurol. 2022. PMID: 35331151 Free PMC article. Review.
The clinical presentation of Pallister-Hall syndrome may include: characteristic facies (low-set and posteriorly angulated ears, short nose with flat nasal bridge), cleft palate and uvula, bifid epiglottis and laryngotracheal cleft, limb anomalies (e.g., polysyndact …
The clinical presentation of Pallister-Hall syndrome may include: characteristic facies (low-set and posteriorly angulated ears, short nose …
Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome.
Inoue Y, Minatoya K, Oda T, Itonaga T, Seike Y, Tanaka H, Sasaki H, Kobayashi J. Inoue Y, et al. Ann Thorac Surg. 2016 Mar;101(3):1185-8. doi: 10.1016/j.athoracsur.2015.05.071. Ann Thorac Surg. 2016. PMID: 26897206 Review.
LDS is characterized by the triad of arterial tortuosity and aneurysm, hypertelorism, and a bifid uvula or cleft palate. We present a case of a 9-year-old boy diagnosed with LDS who underwent urgent thoracoabdominal aortic aneurysm repair followed by total arch repl …
LDS is characterized by the triad of arterial tortuosity and aneurysm, hypertelorism, and a bifid uvula or cleft palate. We pr …
23 results