title: Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs.
abstract: We describe a 15-month-old girl born to a normal family and with non-consanguineous parents presenting with an unusual pattern of multiple congenital anomalies, including frontonasal dysplasia, neuronal migration error, lymphoedema of upper and lower limbs, and mild neuropsychomotor delay. Frontal and nasal haemangiomas, optic disc anomalies and hearing loss were also observed. This seems to be a previously undescribed syndrome of unknown aetiology.
authors.forename: Vera Lúcia Gil da Silva
authors.initials: VL
authors.lastname: Lopes
authors.forename: Maria Leine
authors.initials: ML
authors.lastname: Guion-Almeida
authors.forename: Silvyo David Araújo
authors.initials: SD
authors.lastname: Giffoni
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000473:pathology; D002465:Cell Movement; D002658:Developmental Disabilities / Q000175:diagnosis; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D034381:Hearing Loss / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008209:Lymphedema / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009474:Neurons / Q000166:cytology / Q000473:pathology*; D012640:Seizures / Q000175:diagnosis; D012886:Skull / Q000002:abnormalities