Literature DB >> 26042906

Skeletal dysplasias.

Deborah Krakow1.   

Abstract

The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care, it is important to determine a precise diagnosis to aid in management, familial recurrence, and identify those disorders highly associated with mortality. Long-term management of these disorders is predicated on an understanding of the associated skeletal system abnormalities, and these children are best served by a team approach to health care surveillance.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Achondroplasia; Nonassortive mating; Osteochondrodysplasias; Osteogenesis imperfecta; Skeletal dysplasias; Type II collagenopathies

Mesh:

Year:  2015        PMID: 26042906      PMCID: PMC4456691          DOI: 10.1016/j.clp.2015.03.003

Source DB:  PubMed          Journal:  Clin Perinatol        ISSN: 0095-5108            Impact factor:   3.430


  61 in total

1.  New test could make carrier screening more accessible.

Authors:  Deborah Levenson
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

Review 2.  Clinical phenotypes associated with type II collagen mutations.

Authors:  Peter Kannu; John Bateman; Ravi Savarirayan
Journal:  J Paediatr Child Health       Date:  2011-02-18       Impact factor: 1.954

3.  First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound.

Authors:  L Dugoff; G Thieme; J C Hobbins
Journal:  Ultrasound Obstet Gynecol       Date:  2001-01       Impact factor: 7.299

4.  Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

Authors:  Judith L Ross; Gary Bellus; Charles I Scott; Jack Abboudi; Giedre Grigelioniene; Andrew R Zinn
Journal:  Am J Med Genet A       Date:  2003-01-01       Impact factor: 2.802

5.  Health supervision for children with achondroplasia.

Authors:  Tracy L Trotter; Judith G Hall
Journal:  Pediatrics       Date:  2005-09       Impact factor: 7.124

6.  Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.

Authors:  A K Gedeon; A Colley; R Jamieson; E M Thompson; J Rogers; D Sillence; G E Tiller; J C Mulley; J Gécz
Journal:  Nat Genet       Date:  1999-08       Impact factor: 38.330

7.  Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester.

Authors:  G Makrydimas; A Souka; H Skentou; D Lolis; K Nicolaides
Journal:  Am J Med Genet       Date:  2001-01-15

Review 8.  The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.

Authors:  Z Vajo; C A Francomano; D J Wilkin
Journal:  Endocr Rev       Date:  2000-02       Impact factor: 19.871

9.  Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

Authors:  C G Woods; J G Rogers; V Mayne
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

10.  Birth-related femoral fracture in newborns: risk factors and management.

Authors:  Ramprasad Kancherla; Sukesh Rao Sankineani; Sameer Naranje; Laxman Rijal; Ramakant Kumar; Tahir Ansari; Vivek Trikha
Journal:  J Child Orthop       Date:  2012-06-26       Impact factor: 1.548

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  29 in total

Review 1.  The cartilage matrisome in adolescent idiopathic scoliosis.

Authors:  Carol A Wise; Diane Sepich; Aki Ushiki; Anas M Khanshour; Yared H Kidane; Nadja Makki; Christina A Gurnett; Ryan S Gray; Jonathan J Rios; Nadav Ahituv; Lila Solnica-Krezel
Journal:  Bone Res       Date:  2020-03-09       Impact factor: 13.567

2.  A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.

Authors:  A M Waryah; M Shahzad; H Shaikh; S A Sheikh; N A Channa; R B Hufnagel; A Makhdoom; S Riazuddin; Z M Ahmed
Journal:  Clin Genet       Date:  2015-12-21       Impact factor: 4.438

Review 3.  Wnt signaling in cartilage development and diseases: lessons from animal studies.

Authors:  Yu Usami; Aruni T Gunawardena; Masahiro Iwamoto; Motomi Enomoto-Iwamoto
Journal:  Lab Invest       Date:  2015-12-07       Impact factor: 5.662

4.  Rap1b Is an Effector of Axin2 Regulating Crosstalk of Signaling Pathways During Skeletal Development.

Authors:  Takamitsu Maruyama; Ming Jiang; Alycia Abbott; H-M Ivy Yu; Qirong Huang; Magdalena Chrzanowska-Wodnicka; Emily I Chen; Wei Hsu
Journal:  J Bone Miner Res       Date:  2017-06-26       Impact factor: 6.741

5.  Novel Physique Index for the Screening of Skeletal Dysplasia at Birth.

Authors:  Ryoji Aoki; Nobuhiko Nagano; Aya Okahashi; Shoko Ohashi; Yoshinori Fujinaka; Itsuro Takigawa; Ken Masunaga; Ichiro Morioka
Journal:  Children (Basel)       Date:  2021-04-25

6.  Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta.

Authors:  Pei Jin Lim; Severin Marfurt; Uschi Lindert; Lennart Opitz; Timothée Ndarugendamwo; Pakeerathan Srikanthan; Martin Poms; Martin Hersberger; Claus-Dieter Langhans; Dorothea Haas; Marianne Rohrbach; Cecilia Giunta
Journal:  Front Genet       Date:  2021-05-21       Impact factor: 4.599

7.  Genetic Association and Role of Surgery for the Treatment of Lower Limb Deformities in Diastrophic Dysplasia: A Case Report.

Authors:  Anchal Kumar Tripathi; Sunny Choudhary; Vivek Singh; Prashant Kumar Verma
Journal:  J Orthop Case Rep       Date:  2021-02

8.  CD13 is a critical regulator of cell-cell fusion in osteoclastogenesis.

Authors:  Mallika Ghosh; Tomislav Kelava; Ivana Vrhovac Madunic; Ivo Kalajzic; Linda H Shapiro
Journal:  Sci Rep       Date:  2021-05-24       Impact factor: 4.996

Review 9.  Current Overview of Osteogenesis Imperfecta.

Authors:  Mari Deguchi; Shunichiro Tsuji; Daisuke Katsura; Kyoko Kasahara; Fuminori Kimura; Takashi Murakami
Journal:  Medicina (Kaunas)       Date:  2021-05-10       Impact factor: 2.430

10.  Mesenchyme-specific loss of Dot1L histone methyltransferase leads to skeletal dysplasia phenotype in mice.

Authors:  Pearl A Sutter; Sangita Karki; Ilan Crawley; Vijender Singh; Kathrin M Bernt; David W Rowe; Stephen J Crocker; Dashzeveg Bayarsaihan; Rosa M Guzzo
Journal:  Bone       Date:  2020-10-03       Impact factor: 4.398

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