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Quoted phrase not found in phrase index: "Geleophysic dysplasia 1"
Page 1
Patients with geleophysic dysplasia are not always geleophysic.
Santolaya JM, Groninga LC, Delgado A, Monasterio JL, Camarero C, Bilbao FJ. Santolaya JM, et al. Am J Med Genet. 1997 Oct 3;72(1):85-90. Am J Med Genet. 1997. PMID: 9295082 Review.
We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible with a diagnosis of geleophysic dysplasia (GD). One of them also had fibrosis and fatty …
We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inc …
Genetic and molecular aspects of acromelic dysplasia.
Le Goff C, Cormier-Daire V. Le Goff C, et al. Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Pediatr Endocrinol Rev. 2009. PMID: 19396027 Review.
The acromelic dysplasia group includes three rare disorders: Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) all characterized by short stature, short hands and stiff joints. ...Using genetic approaches, we hav …
The acromelic dysplasia group includes three rare disorders: Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and …
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V. Kochhar A, et al. Am J Med Genet A. 2013 Dec;161A(12):3130-2. doi: 10.1002/ajmg.a.36147. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214363
Three disorders are ascribed to this group, namely Weill-Marchesani syndrome, geleophysic dysplasia, and acromicric dysplasia, although similar in phenotype, can be distinguished clinically. ...Microspherophakia has not been reported previously in g …
Three disorders are ascribed to this group, namely Weill-Marchesani syndrome, geleophysic dysplasia, and acromicric …
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
Li D, Dong H, Zheng H, Song J, Li X, Jin Y, Liu Y, Yang Y. Li D, et al. Eur J Med Genet. 2017 Dec;60(12):685-689. doi: 10.1016/j.ejmg.2017.09.003. Epub 2017 Sep 14. Eur J Med Genet. 2017. PMID: 28917829
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. ...In conclusion, we have identified a novel splicing mutation of ADAMTSL2 carried by a Chinese boy with geleophysic dysplasia type 1. The patient w …
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. ...In conclusion, we have ide …
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM. Cecchi A, et al. Am J Med Genet A. 2013 Sep;161A(9):2305-10. doi: 10.1002/ajmg.a.36044. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897642 Free PMC article.
Mutations in FBN1 cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill-Marchesani syndrome (WMS), familial thoracic aortic aneurysms/dissections (FTAAD), acromicric dysplasia (AD), and geleophysic dysplasia (GD). …
Mutations in FBN1 cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill-Marchesani syndrome (WMS), fam …
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.
Quitter F, Flury M, Waldmueller S, Schubert T, Koehler K, Huebner A. Quitter F, et al. J Pediatr Endocrinol Metab. 2022 Aug 9;35(11):1443-1447. doi: 10.1515/jpem-2022-0287. Print 2022 Nov 25. J Pediatr Endocrinol Metab. 2022. PMID: 35942587
CASE PRESENTATION: Here we report a novel mutation in the fibrillin 1 gene (FBN1) in six family members causing a mild phenotype of acromicric dysplasia. Additionally, we present the effects of growth hormone therapy in one of the affected children. CONCLUSIO …
CASE PRESENTATION: Here we report a novel mutation in the fibrillin 1 gene (FBN1) in six family members causing a mild phenotype of …
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia.
Rennie AC, Stewart G, Whiteford M, Johnston T, Tolmie JL. Rennie AC, et al. Prenat Diagn. 1997 Nov;17(11):1067-70. Prenat Diagn. 1997. PMID: 9399356
Geleophysic dysplasia is a rare, autosomal recessive disorder which causes disproportionate short stature associated with severe physical handicaps, but is compatible with survival into adulthood. ...The correct diagnosis was not made until the proband was nearly …
Geleophysic dysplasia is a rare, autosomal recessive disorder which causes disproportionate short stature associated with seve …
Orthopedics management of acromicric dysplasia: follow up of nine patients.
Klein C, Le Goff C, Topouchian V, Odent S, Violas P, Glorion C, Cormier-Daire V. Klein C, et al. Am J Med Genet A. 2014 Feb;164A(2):331-7. doi: 10.1002/ajmg.a.36139. Epub 2013 Dec 11. Am J Med Genet A. 2014. PMID: 24339047
Acromicric dysplasia (AD) is an autosomal dominant disorder characterized by short stature, short extremities, stiff joint and skeleton features including brachymetacarpia, cone-shaped epiphyses, internal notch of the femoral head, and delayed bone age. Recently, we …
Acromicric dysplasia (AD) is an autosomal dominant disorder characterized by short stature, short extremities, stiff joint and …
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
Reyes-Hernández OD, Palacios-Reyes C, Chávez-Ocaña S, Cortés-Malagón EM, Alonso-Themann PG, Ramos-Cano V, Ramírez-Bello J, Sierra-Martínez M. Reyes-Hernández OD, et al. BMC Musculoskelet Disord. 2016 Feb 15;17:79. doi: 10.1186/s12891-016-0935-9. BMC Musculoskelet Disord. 2016. PMID: 26875674 Free PMC article. Review.
BACKGROUND: FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widely distributed in structural elements of elastic and non-elastic tissues. FBN1 variants are responsible for the related connective tissue dis …
BACKGROUND: FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widel …
15 results