Psychopathology in the Lujan–Fryns syndrome: Report of two patients and review

@article{LermaCarrillo2006PsychopathologyIT,
  title={Psychopathology in the Lujan–Fryns syndrome: Report of two patients and review},
  author={Iv{\'a}n Lerma-Carrillo and Juan D. Molina and Teresa Cuevas-Dur{\'a}n and Carmen Julve-Correcher and Juan Manuel Espejo-Saavedra and Cristina Andrade-Rosa and Francisco Javier L{\'o}pez-Mu{\~n}oz},
  journal={American Journal of Medical Genetics Part A},
  year={2006},
  volume={140A}
}
We report on two new patients, the propositus and his maternal uncle, with Lujan–Fryns syndrome (LFS). One presented with mild mental retardation and both patient had Marfanoid habitus and similar craniofacial anomalies (they had a long and narrow face, small mandible, high‐arched palate, and hypernasal voice) as previously reported by Lujan et al. in 1984 and Fryns and Buttiens in 1987. One of our patients had agenesis of the corpus callosum as described by Lujan. The second patient had an… 

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  • Marc S. Williams
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    American journal of medical genetics. Part A
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