title: Congenital hypothalamic hamartoma associated with severe midline defect: a developmental field defect. Report of a case.
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.
authors.affiliation: Clinical Genetics Center, Utrecht, The Netherlands.
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: F
authors.initials: F
authors.lastname: Van Merrienboer
authors.forename: B A
authors.initials: BA
authors.lastname: Van Ketel
authors.forename: P P
authors.initials: PP
authors.lastname: Kramer
mesh_terms: D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities*; D005260:Female; D006222:Hamartoma / Q000151:congenital* / Q000473:pathology; D006801:Humans; D007029:Hypothalamic Neoplasms / Q000151:congenital* / Q000473:pathology; D007231:Infant, Newborn; D011859:Radiography