Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs.
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.
Lopes
Vera Lúcia Gil da Silva
VL
Guion-Almeida
Maria Leine
ML
Giffoni
Silvyo David Araújo
SD
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