Skip to main content
Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

Fig. 2

a: Pedigree and mutations in patient 1. b: Radiological examination at age 15 months shows narrowing of the intervertebral spaces of C2/3 and C3/4 presumably due to nonosseous synostosis. c-f: Radiological examinations at age 11 months. Butterfly vertebra is evident in T9. Only ten pairs of the ribs and 11th rib of the right are seen. The lumbar vertebral bodies are small, and ossification of the neural arches is defective. Caudal narrowing of the lumbar interpedicular distance is seen. The sacrum is hypoplastic and deviated rightward. g: Ossification of the ischial rami is defective, and the ischiopubic synchondroses are wide

Back to article page