Noonan phenotype associated with neurofibromatosis

We report on four patients with neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, “midface hypoplasia,” apparently short webbed neck, learning disabilities, and weakness. No family history of neurofibromatosis was present in any case. Average paternal and mater...

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Veröffentlicht in:	American journal of medical genetics 1985-07, Vol.21 (3), p.457-462
Hauptverfasser:	Allanson, J. E., Hall, J. G., Van Allen, M. I., Opitz, John M., Reynolds, James F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Body Height Child, Preschool Complex syndromes Developmental Disabilities - genetics Facial Expression Female Humans hypotonia Infant Male Maternal Age Medical genetics Medical sciences Muscle Hypotonia - genetics Mutation myopathy neurofibromatosis Neurofibromatosis 1 - genetics Noonan phenotype Noonan syndrome Noonan Syndrome - genetics Paternal Age Phenotype Pregnancy, High-Risk Syndrome
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