Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.

@article{Tysz2009ClinicalVO,
  title={Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.},
  author={Beyhan T{\"u}ys{\"u}z and Safa Bariş and Figen Aksoy and Riza Madazli and Savaş Ung{\"u}r and Lale Sever},
  journal={American journal of medical genetics. Part A},
  year={2009},
  volume={149A 8},
  pages={1727-33}
}
Asphyxiating thoracic dystrophy-Jeune syndrome (JS) is a rare autosomal recessive disease characterized by small thorax and short limb dwarfism. Besides the clinical variability, prognosis also differs greatly among patients. Pulmonary involvement is predominant in some cases whereas renal involvement is much more evident in others. We aimed to investigate the clinical variability and prognosis in 13 patients with JS from 11 families. Two of them, who had been diagnosed in the prenatal period… CONTINUE READING

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