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Congenital hypothalamic hamartoma associated with severe midline defect: a developmental field defect. Report of a
R C Hennekam1, F A Beemer, F Van Merrienboer
1Clinical Genetics Center, Utrecht, The Netherlands.
American Journal of Medical Genetics. Supplement
|January 1, 1986
Abstract:
We describe a median "cleft" face anomaly (MCFA) with congenital hypothalamic hamartoma in a newborn girl. The MCFA was associated with a frontal midline skull lipoma and a complex congenital heart defect. Possible pathogenetic mechanisms are discussed, and a review of the pertinent literature is given. It is concluded that probably all malformations in our patient are disturbances of a single developmental field defect, ie, the midline.