Literature DB >> 1008064

The Dyggve-Melchior-Clausen syndrome.

J Naffah.   

Abstract

Two new cases of Dyggve-Melchior-Clausen syndrome are described; they belong to the fourth family from Lebanon in which this disease has been recognized. There is no genealogical linkage between these four families. A particular feature in these cases is a striking rhizomelic shortness of the arms especially in one case. Clinical and radiological findings, progression of the skeletal changes are studied, along with the review of the cases in the literature. Cytological and biochemical data indicate that the DMC syndrome is not a mucopolysaccharidosis.

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Year:  1976        PMID: 1008064      PMCID: PMC1685173     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  5 in total

1.  Concentrically laminated membranous inclusions in myofibres of Dyggve-Melchior-Clausen syndrome.

Authors:  A K Afifi; V M Der Kaloustian; N B Bahuth; J Mire-Salman
Journal:  J Neurol Sci       Date:  1974-03       Impact factor: 3.181

2.  Morquio's disease and mucopolysaccharide excretion.

Authors:  A Linker; L R Evans; L O Langer
Journal:  J Pediatr       Date:  1970-12       Impact factor: 4.406

3.  The Dyggve-Melchior-Clausen syndrome.

Authors:  J Spranger; P Maroteaux; V M Der Kaloustian
Journal:  Radiology       Date:  1975-02       Impact factor: 11.105

4.  [2 further cases of Dyggve-Melchior-Clausen syndrome with hypoplasia of the odontoid apophysis and spinal compression].

Authors:  J Naffah; N Taleb
Journal:  Arch Fr Pediatr       Date:  1974-12

5.  The Dyggve-Melchior-Clausen syndrome.

Authors:  R L Kaufman; D L Rimoin; W H McAlister
Journal:  Birth Defects Orig Artic Ser       Date:  1971-02
  5 in total
  4 in total

1.  Dyggve-Melchior-Clausen syndrome.

Authors:  P Beighton
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

2.  Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.

Authors:  C Thauvin-Robinet; V El Ghouzzi; W Chemaitilly; N Dagoneau; O Boute; G Viot; A Mégarbané; A Sefiani; A Munnich; M Le Merrer; V Cormier-Daire
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

3.  Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.

Authors:  Mona S Aglan; Samia A Temtamy; Ekram Fateen; Adel M Ashour; Khamis Eldeeb; Gamal A Hosny
Journal:  J Child Orthop       Date:  2009-10-09       Impact factor: 1.548

4.  Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.

Authors:  Vladimir Kenis; Alexey Baindurashvili; Evgeniy Melchenko; Franz Grill; Ali Al Kaissi
Journal:  Ger Med Sci       Date:  2011-09-20
  4 in total

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