• Yoshiro Yoshikawa, Chikashi Yamakawa, Takanao Shimabukuro, Hideo Kinjo, Shogo Fukase, Hiromichi Oshiro, Ryo Katsuki, Yasunori Tome, and Kotaro Nishida.
• Department of Orthopedic Surgery, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan.
• Medicine (Baltimore). 2023 Mar 24; 102 (12): e33414e33414.

RationaleMicrophthalmia with limb anomalies is a rare, autosomal recessive, multiple congenital anomaly syndrome. Patients with this syndrome particularly present with monocular or bilateral anophthalmia/microphthalmia and distal limb anomalies. However, details regarding associated spinal deformities have not been fully elucidated.Patient ConcernsA 12-year-old girl initially presented with progressive scoliosis, who was previously diagnosed with microphthalmia with limb anomalies. However, 4 years after the initial visit, the scoliosis deformity gradually progressed. The patient and family requested the surgical treatment to preserve standing/sitting balance.DiagnosesShe was diagnosed with microphthalmia with limb anomalies and progressive scoliosis.InterventionsA posterior corrective fusion surgery (including a pelvic fusion) was performed to prevent future standing/sitting imbalance.OutcomesSignificant improvement of spinal deformity was observed, with no adverse events.LessonsThis report demonstrated a case of progressive scoliosis associated with microphthalmia with limb anomalies. A posterior corrective spinal fusion was effective to preserve standing/sitting balance. To the best of our knowledge, this is the first report of surgical treatment of progressive scoliosis associated with microphthalmia with limb anomalies.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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