Warkany syndrome

Warkany syndrome

Two distinct congenital syndromes were named after Joseph Warkany, an Austrian-American geneticist and pediatrician, 1902-1992.

Contents

Warkany syndrome 1

Warkany syndrome 1 is an X-chromosome linked recessive genetic condition originally described by Warkany in 1961 as part of an article on intrauterine growth retardation.[1] The family history was consistent with X-linked recessive inheritance of intrauterine growth retardation and small head size, but these features are not unique to this condition and no linkage to a specific gene was ever established. In fact, the condition appears to have been abandoned, given that the OMIM number (308400) assigned to it ([1]) and listed in a review article on X-linked mental retardation[2] has been removed from the OMIM database. Furthermore, this condition is no longer mentioned in a more recent review of X-linked mental retardation.[3]

Warkany syndrome 2 (trisomy 8)

Warkany syndrome 2, or simply "Warkany syndrome", is used by some authors when referring to chromosome 8 trisomy syndrome (Trisomy 8),.[4] Complete trisomy 8 causes severe effects on the developing fetus and is almost always perinatal lethal. Trisomy 8 mosaicism is less severe and individuals with this condition are more likely to survive. Trisomy 8 is associated with a characteristic and recognizable pattern of developmental abnormalities.[5] The type and severity of symptoms are dependent upon the location and proportion of trisomy 8 cells compared to normal cells.[6]

References

  1. ^ Warkany J (1961). "Intrauterine growth retardation.". Am. J. Dis. Child 102: 249–79. PMID 13783175. 
  2. ^ Lubs H (1999). "XLMR genes: update 1998.". Am. J. Med. Genet. 83: 237–47. doi:10.1002/(SICI)1096-8628(19990402)83:4<237::AID-AJMG2>3.0.CO;2-8. PMID 10208155. 
  3. ^ Chiurazzi P (2008). "XLMR genes: update 2007.". Eur. J. Hum. Genet. 16: 422–34. doi:10.1038/sj.ejhg.5201994. PMID 18197188. 
  4. ^ DDB 32656
  5. ^ Riccardi VM (1977). "Trisomy 8: an international study of 70 patients". Birth Defects Orig. Artic. Ser. 13 (3C): 171–84. PMID 890109. 
  6. ^ Jones, K. L. (2005). Smith's Recognizable Patterns of Human Malformation. (6th ed.). Philadelphia: W. B. Sanders Company.

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