Literature DB >> 273099

Waardenburg-like features with cataracts, small head size, joint abnormalities, hypogonadism, and osteosarcoma.

D M Parry, A W Safyer, J J Mulvihill.   

Abstract

A 32-year-old black man was observed with osteosarcoma and multiple anomalies including deafness, hypopigmentation, cataracts, small head size, hypogonadism, and restricted joint mobility. The birth defects may comprise a new syndrome or combination of syndromes, of which the malignancy may be a part.

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Year:  1978        PMID： 273099      PMCID： PMC1012826          DOI： 10.1136/jmg.15.1.66

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  MICRODROPLET ASSAY OF HUMAN SERUM CYTOTOXINS.

Authors:  P I TERASAKI; J D MCCLELLAND
Journal:  Nature       Date:  1964-12-05       Impact factor: 49.962

Review 2.  Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process.

Authors:  C J Epstein; G M Martin; A L Schultz; A G Motulsky
Journal:  Medicine (Baltimore)       Date:  1966-05       Impact factor: 1.889

3.  Toxicity of antineoplastic agents in man, chromosomal aberrations antifertility effects, congenital malformations, and carcinogenic potential.

Authors:  S M Sieber; R H Adamson
Journal:  Adv Cancer Res       Date:  1975       Impact factor: 6.242

Review 4.  The major histocompatibility complex--genetics and biology. (First of three parts).

Authors:  F H Bach; J J van Rood
Journal:  N Engl J Med       Date:  1976-10-07       Impact factor: 91.245

5.  Genetic heterogeneity in the Waardenburg syndrome.

Authors:  S Arias
Journal:  Birth Defects Orig Artic Ser       Date:  1971-03

6.  A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance.

Authors:  J A Edwards; P K Sethi; A J Scoma; R M Bannerman; L A Frohman
Journal:  Am J Med       Date:  1976-01       Impact factor: 4.965
  6 in total
  2 in total

1.  Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.

Authors:  R C Hennekam; A G van de Meeberg; J M van Doorne; P F Dijkstra; J B Bijlsma
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

2.  Waardenburg's syndrome.

Authors:  S Arias
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318
  2 in total

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