Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

@article{Casaccia2006Distal4M,
  title={Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.},
  author={Germana Casaccia and Luisa Mobili and Annabella Braguglia and Francesco Santoro and Pietro Bagolan},
  journal={Birth defects research. Part A, Clinical and molecular teratology},
  year={2006},
  volume={76 3},
  pages={
          210-3
        }
}
BACKGROUND Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases… CONTINUE READING
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