A. Verloes et S. Lesenfants, A NEW FORM OF MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA, Clinical dysmorphology, 6(1), 1997, pp. 21-24
We report on a girl aged 7 years with normal mental development but an
unusual form of mandibulofacial dysostosis. The hallmarks of the synd
rome are a round, flat face, severe hypertelorism, downslanting palpeb
ral fissures extending to the temples, a broad nasal base, anteverted
nares, small, posteriorly rotated ears, a long, smooth philtrum, a thi
n upper lip, striking macrostomia, retrognathism with reduced height o
f the mandible, and irregularly placed teeth, some of them missing.