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Vertical transmission of the neurofibromatosis/Noonan syndrome



Vertical transmission of the neurofibromatosis/Noonan syndrome



American Journal of Medical Genetics 26(3): 645-649



We are reporting on a boy and his mother with neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, and short neck. Developmental delay was noted in the son, and the mother was noted to have a heart murmur. There was a family history of café-au-lait spots, and photographs of several of these relatives showed a facial appearance suggesting Noonan syndrome. The presence of neurofibromatosis associated with Noonan syndrome manifestations in our related patients suggests presence of a unique disorder sharing characteristics of both conditions.

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Accession: 041952634

Download citation: RISBibTeXText

PMID: 3105315

DOI: 10.1002/ajmg.1320260320


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