Literature DB >> 26130880

Radiographic findings in the nail-patella syndrome.

James A West1, Thomas H Louis1.   

Abstract

Nail-patella syndrome is a rare disorder characterized classically by the tetrad of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns. Iliac horns are considered pathognomonic, and the presence of hypoplastic or aplastic patellae in conjunction with nail abnormalities is a cardinal feature of diagnosis. Elbow dysplasia is present in most cases and can exhibit features typical of the syndrome. Herein we present the radiographic findings of the elbows, knees, and pelvis of a woman with nail-patella syndrome.

Entities:  

Year:  2015        PMID: 26130880      PMCID: PMC4462213          DOI: 10.1080/08998280.2015.11929265

Source DB:  PubMed          Journal:  Proc (Bayl Univ Med Cent)        ISSN: 0899-8280


  6 in total

Review 1.  Estimating prevalence in single-gene kidney diseases progressing to renal failure.

Authors:  M Levy; J Feingold
Journal:  Kidney Int       Date:  2000-09       Impact factor: 10.612

2.  Iliac horns; an osseous manifestation of hereditary arthrodysplasia associated with dystrophy of the fingernails.

Authors:  E A THOMPSON; E T WALKER; H S WEENS
Journal:  Radiology       Date:  1949-07       Impact factor: 11.105

3.  Iliac horns (symmetrical bilateral central posterior iliac processes).

Authors:  E E FONG
Journal:  Radiology       Date:  1946-11       Impact factor: 11.105

4.  Nail patella syndrome revisited: 50 years after linkage.

Authors:  I McIntosh; J A Dunston; L Liu; J E Hoover-Fong; E Sweeney
Journal:  Ann Hum Genet       Date:  2005-07       Impact factor: 1.670

Review 5.  Nail-patella syndrome and renal involvement. Description of three cases and literature review.

Authors:  A Granata; G Nori; R Ravazzolo; M Marini; S Castellino; E Sicurezza; C E Fiore; R Mignani
Journal:  Clin Nephrol       Date:  2008-05       Impact factor: 0.975

Review 6.  Nail-patella syndrome. Overview on clinical and molecular findings.

Authors:  Ernie M H F Bongers; Marie-Claire Gubler; Nine V A M Knoers
Journal:  Pediatr Nephrol       Date:  2002-07-30       Impact factor: 3.714

  6 in total
  2 in total

1.  Pelvic radiograph in skeletal dysplasias: An approach.

Authors:  Manisha Jana; Nikhil Nair; Arun K Gupta; Madhulika Kabra; Neerja Gupta
Journal:  Indian J Radiol Imaging       Date:  2017 Apr-Jun

2.  Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding.

Authors:  Bruna Giusto Bunjes; Marcelle da Costa Frickmann Fernandes
Journal:  An Bras Dermatol       Date:  2017 Mar-Apr       Impact factor: 1.896

  2 in total

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