Cohen syndrome with high urinary excretion of hyaluronic acid

American Journal of Medical Genetics

Volumn 76, Issue 5, 1998, Pages 387-388

  Okamoto, Nobuhiko ^a   Hatsukawa, Yoshikazu ^a   Arai, Hiroshi ^a   Goto, Makoto ^b  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b Tokyo Metropolitan Ohtsuka Hospital   (Japan)

Author keywords

Cohen syndrome; Connective tissue disorder; Hyperhyaluronic aciduria

Indexed keywords

HYALURONIC ACID;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; COHEN SYNDROME; CONTROLLED STUDY; FEMALE; FOOT MALFORMATION; HAND MALFORMATION; HUMAN; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; OBESITY; PRIORITY JOURNAL; RETINA MALFORMATION; URINARY EXCRETION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; HYALURONIC ACID; LEUKOPENIA; MENTAL RETARDATION; METABOLISM, INBORN ERRORS; MICROCEPHALY; OBESITY; SYNDROME;

EID: 0032513581     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980413)76:5<387::AID-AJMG4>3.0.CO;2-K     Document Type: Article

References (11)

1. Carey JC, Hall BD (1978): Confirmation of the Cohen syndrome. J Pediatr 93:239-244.
2. Cohen MM, Hall BD, Smith DW, Graham CB, Lampert KJ (1973): A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr 83:280-284.
3. Goto M, Murata K (1981): Urinary excretion of macromolecular acidic glycosaminoglycans in Werner's syndrome. Clin Chim Acta 85:101-106.
4. Higgins JJ, Kaneski CR, Bernardini I, Brady RO, Barton NW (1994): Pyridoxine-responsive hyper-β-alaninemia associated with Cohen's syndrome. Neurology 44:1728-1732.
5. Kousseff BG (1981): Cohen syndrome: Further delineation and inheritance. Am J Med Genet 9:25-30.
6. Maekawa Y, Hayashibara T (1981): Determination of hyaluronic acid in the urine of a patient with Werner's syndrome. J Dermatol 8:467-472.
7. Méhes K, Kosztolányi G, Kardos M, Horvath M (1988): Cohen syndrome: A connective tissue disorder? Am J Med Genet 31:131-133.
8. Sack J, Friedman E (1980): Cardiac involvement in the Cohen syndrome: A case report. Clin Genet 17:317-319.
9. Schlichtemeier TL, Tomlinson GE, Kamen BA, Waber LJ, Wilson GN (1994): Multiple coagulation defects and the Cohen syndrome. Clin Genet 45:212-216.
10. Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P, de la Chapelle A (1994): Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nature Genet 7:201-204.
11. Zebrower M, Kieras FJ, Brown WT (1986): Urinary hyaluronic acid elevation in Hutchinson-Gilford progeria syndrome. Mech Aging Dev 35:39-46.