case_images: PMC11748807_01
case_images: A Clinical assessment of the patient's hands showing restricted mobility. B The patient's phenotype presenting curly hair. C Family history chart. Both parents are carriers of an autosomal recessive variant, and the patient is a homozygous individual for this condition
case_images: 13052_2025_1858_Fig2_HTML.jpg
case_images: PMC11748807_01_13052_2025_1858_Fig2_HTML.jpg
case_images: Fig2
case_images: A 9-year-old female presented at the Orthopedic Outpatient Clinic of Xiangya Hospital, Central South University, with a history of restricted hand movements since infancy (Fig. 2A). Multidisciplinary consultation revealed that the patient had curly hair (Fig. 2B), normal growth and development, no narrow forehead or microcephaly, normal neurodevelopment, no strabismus or ptosis, and good bilateral visual acuity, without scapular winging. Notably, there was no similar medical history in the family, making her the first in the family to exhibit these symptoms (Fig. 2C).