Literature DB >> 8473128

A case report of an Irish family displaying nail-patella syndrome.

N Downey1.   

Abstract

This is a case report of an Irish family displaying classical features of Nail-Patella Syndrome--also known as Osteo-onycho Dystrophy--involving four members over three generations. This rare autosomal dominant disorder is well defined with four classical characteristics: dysplasia of finger nails, hypoplastic or absent patellae, hypoplasia of the head of the radius and often the capitulum of the humerus leading to subluxation or dislocation of the radial head and iliac prominences, known as iliac horns which are usually bilateral and symmetrical. Renal dysfunction is also commonly reported. This is the first report of the Nail-Patella Syndrome in an Irish family.

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Year:  1993        PMID: 8473128     DOI: 10.1007/bf02942096

Source DB:  PubMed          Journal:  Ir J Med Sci        ISSN: 0021-1265            Impact factor:   1.568


  6 in total

1.  HEREDITARY OSTEO-ONYCHO-DYSPLASIA (HOOD).

Authors:  P CARBONARA; M ALPERT
Journal:  Am J Med Sci       Date:  1964-08       Impact factor: 2.378

2.  Genetical linkage between the ABO and nail-patella loci.

Authors:  J H RENWICK; S D LAWLER
Journal:  Ann Hum Genet       Date:  1955-06       Impact factor: 1.670

3.  [Hereditary osteo-onychodysplasia].

Authors:  W ROECKERATH
Journal:  Fortschr Geb Rontgenstr       Date:  1951-12

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

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

5.  Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns.

Authors:  C F HAWKINS; O E SMITH
Journal:  Lancet       Date:  1950-04-29       Impact factor: 79.321

6.  Hereditary onycho-osteodysplasia (Nail-Patella syndrome). A report of nine kindreds.

Authors:  R K Beals; A L Eckhardt
Journal:  J Bone Joint Surg Am       Date:  1969-04       Impact factor: 5.284

  6 in total
  1 in total

1.  Nail-patella syndrome in Saudi Arabia with new features and surgical procedures: the first described study.

Authors:  Abdullah H A Juma
Journal:  MedGenMed       Date:  2004-04-27
  1 in total

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