Noonan-like syndrome with loose anagen hair: a new syndrome?

  title={Noonan-like syndrome with loose anagen hair: a new syndrome?},
  author={Laura Mazzanti and Emanuele Cacciari and Alessandro Cicognani and Rosalba Bergamaschi and Emanuela Scarano and Antonino Forabosco},
  journal={American journal of medical genetics. Part A},
  volume={118A 3},
We present three children with short stature, the same facial phenotype, macrocephaly, enlarged cerebral spinal fluid spaces, short neck with redundant skin, severe GH deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder (ADHD), mild dilatation of the pulmonary root in two of them, and a unique combination of ectodermal abnormalities. Their appearance, not completely typical of Noonan syndrome, the behavioral phenotype, GH deficiency, darkly pigmented and hairless… CONTINUE READING


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