Winter-Kohn-Mellman-Wagner syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Winter Kohn Mellman Wagner syndrome is a very rare congenital disease with a combination of malformations of the urinary and genital system and micrognathia or middle ear .

The name refers to the authors of the first description from 1968 by JS Winter, G. Kohn, WJ Mellman, S. Wagner.

distribution

The frequency is given as less than 1 in 1,000,000, so far only individual cases have been reported.

literature

  • Robert Roger Lebel: 50 Years Ago in The Journal of Pediatrics. In: The Journal of Pediatrics. Vol. 192, 2018, p. 129, doi: 10.1016 / j.jpeds.2017.07.042
  • G. Turner: A second family with renal, vaginal, and middle ear anomalies. In: The Journal of pediatrics. Vol. 76, No. 4, April 1970, p. 641, PMID 5420806 .

Individual evidence

  1. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ^ Abnormalities of the kidney, genitals and middle ear. In: Orphanet (Rare Disease Database).
  3. ↑ JS Winter, G. Kohn, WJ Mellman, S. Wagner: A familial syndrome of renal, genital, and middle ear anomalies. In: The Journal of pediatrics. Vol. 72, No. 1, January 1968, pp. 88-93, PMID 5634940 .
  4. ↑ Renal, Genital, And Middle Ear Anomalies.  In: Online Mendelian Inheritance in Man . (English)