Congenital hypothalamic hamartoma associated with severe midline defect: A developmental field defect. Report of a case
- 1 January 1986
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 25 (S2), 45-52
- https://doi.org/10.1002/ajmg.1320250608
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.Keywords
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