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Page 1
Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.
Wang T, Yang Y, Dong Q, Zhu H, Liu Y. Wang T, et al. Mol Genet Genomic Med. 2020 Jul;8(7):e1282. doi: 10.1002/mgg3.1282. Epub 2020 May 14. Mol Genet Genomic Med. 2020. PMID: 32406602 Free PMC article. Review.
BACKGROUND: Acromicric dysplasia is a rare heritable short-stature syndrome with joint stiffness and varying degrees of cutaneous hardness. ...METHODS: By performing skin biopsy, X-ray imaging, electrocardiography, as well as whole-genome sequencing and Sanger seque …
BACKGROUND: Acromicric dysplasia is a rare heritable short-stature syndrome with joint stiffness and varying degrees of cutane …
[Acromicric dysplasia].
Nakamura M. Nakamura M. Ryoikibetsu Shokogun Shirizu. 2001;(33):141. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462371 Review. Japanese. No abstract available.
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. ...
The acromelic dysplasia group includes three rare disorders: Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric …
Children with short-limbed short stature in pediatric endocrinological services in Japan.
Hasegawa K, Tanaka H. Hasegawa K, et al. Pediatr Int. 2014 Dec;56(6):809-812. doi: 10.1111/ped.12511. Epub 2014 Nov 28. Pediatr Int. 2014. PMID: 25244068 Review.
We conducted a genetic analysis of 25 patients who had been clinically diagnosed as having "hypochondroplasia". In these patients, other diseases such as acromicric dysplasia, geleophysic dysplasia, and Aarskog-Scott syndrome were included in addition to FGFR3-relat …
We conducted a genetic analysis of 25 patients who had been clinically diagnosed as having "hypochondroplasia". In these patients, other dis …
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH. Cheng SW, et al. Eur J Med Genet. 2018 Apr;61(4):219-224. doi: 10.1016/j.ejmg.2017.11.018. Epub 2017 Nov 27. Eur J Med Genet. 2018. PMID: 29191498 Review.
Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities within this group of disorders and are characterized by short stature, short hands, stiff joints, skin thickening, facial anomalies, normal int …
Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities wit …
From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C, Cormier-Daire V. Le Goff C, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791552 Review.
Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysplasia (AD), and Myhre syndrome (MS). Although closely similar, they can be distinguished by subtle clinical features and their patter …
Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric d …
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.
FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric d …
FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which …