title: Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.
abstract: BACKGROUND
  Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally.
  
  
  METHODS
  Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy.
  
  
  CONCLUSIONS
  The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.
authors.affiliation: Department of Biology and Genetics, Medical University of Gdańsk.
authors.forename: Ewa
authors.initials: E
authors.lastname: Kaczorowska
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology.
authors.forename: Janusz
authors.initials: J
authors.lastname: Zimowski
authors.affiliation: Department of Pediatrics, Hematology, Oncology, Medical University of Gdańsk.
authors.forename: Monika
authors.initials: M
authors.lastname: Cichoń-Kotek
authors.affiliation: Faculty of Medicine, Medical University of Gdańsk.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Mrozińska
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology.
authors.forename: Joanna
authors.initials: J
authors.lastname: Purzycka
authors.affiliation: Department of Pediatrics, Hematology, Oncology, Medical University of Gdańsk, Department of General Nursing, Medical University of Gdańsk.
authors.forename: Jolanta
authors.initials: J
authors.lastname: Wierzba
authors.affiliation: Department of Biology and Genetics, Medical University of Gdańsk.
authors.forename: Janusz
authors.initials: J
authors.lastname: Limon
authors.affiliation: Department of Biology and Genetics, Medical University of Gdańsk.
authors.forename: Beata S
authors.initials: BS
authors.lastname: Lipska-Ziętkiewicz
mesh_terms: D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D017384:Sequence Deletion; D014424:Turner Syndrome / Q000150:complications*
chemical_list: D016189:Dystrophin
keywords:  DMD ;  Duchenne muscular dystrophy;  monosomy X chromosome; Turner syndrome