The medical team suspected RIDDLE syndrome after observing the patient's facial dysmorphism, short stature, motor control and learning difficulties, ataxia, microcephaly, conjunctival telangiectasia, recurrent sinus infections, and markers indicating late-onset pulmonary fibrosis, elevated alpha-fetoprotein, and increased radiosensitivity.
The medical team suspected RIDDLE syndrome after observing the patient's facial dysmorphism, short stature, motor control and learning difficulties, ataxia, microcephaly, conjunctival telangiectasia, recurrent sinus infections, and markers indicating late-onset pulmonary fibrosis, elevated alpha-fetoprotein, and increased radiosensitivity.
医療チームは、患者に顔面異形、低身長、運動制御および学習困難、運動失調、小頭症、結膜毛細血管拡張、反復性副鼻腔感染、遅発性の肺線維症の兆候、αフェトプロテインの上昇、そして放射線過敏性の増加が認められたことから、これらの症状を特徴とするまれな症候群を疑った。
