Night blindness-skeletal anomalies-dysmorphism syndrome
Night blindness-skeletal anomalies-dysmorphism syndrome
Definition
This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).
Also known as Hunter-Thompson-Reed syndrome — per MONDO