A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation.
Two sisters are reported with up-slanting palpebral fissures, hypertelorism, ptosis, a broad, bifid nasal tip, a high-arched palate, mental retardation, abnormal EEG and hand malformations in one of the patients. The girls' parents originate from the same village. Although the findings resemble the recently defined neurofaciodigitorenal syndrome, some findings suggest that this is a newly recognized syndrome.
Mégarbané
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Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001763:Blepharoptosis / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005192:Family Health; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis*; D008607:Intellectual Disability / Q000175:diagnosis*; D009666:Nose / Q000002:abnormalities; D009679:Nuclear Family; D014071:Tooth Abnormalities / Q000175:diagnosis