Congenital radioulnar synostosis: is prenatal diagnosis possible? - A case report

Taiwan J Obstet Gynecol. 2023 Mar;62(2):334-335. doi: 10.1016/j.tjog.2022.09.011.

Abstract

Objectives: The main objectives of this case report are to discuss prenatal ultrasound findings of congenital radioulnar synostosis and to review the literature.

Case report: A patient was diagnosed with congenital radioulnar synostosis at eight months old when parents noticed limited motions in the child's left forearm. The parent denied any traumatic or family history of bony malformations. Physical examination by a pediatric orthopedics specialist and digital radiography revealed proximal radioulnar synostosis. The case report includes perinatal course, comparison between the postnatal radiography and fetal ultrasound images.

Conclusion: Congenital radioulnar synostosis is often associated with sex chromosome abnormalities and congenital musculoskeletal disorders or syndromes affecting limbs. Isolated congenital radioulnar synostosis is hardly diagnosed before birth, in some cases even have been neglected postnatally. Knowing the developmental milestones of the forearm and specified high-risk groups might help develop a targeted screening strategy to increase the possibility of early detection and intervention.

Keywords: Congenital abnormalities; Diagnostic imaging; Orthopedics; Prenatal; Prenatal diagnosis; Radioulnar synostosis; Ultrasonography.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Child
  • Female
  • Humans
  • Infant
  • Pregnancy
  • Prenatal Diagnosis
  • Radius / abnormalities
  • Radius / diagnostic imaging
  • Synostosis* / complications
  • Synostosis* / diagnostic imaging
  • Ulna / abnormalities
  • Ulna / diagnostic imaging

Supplementary concepts

  • Radioulnar Synostosis
  • Radio-ulnar synostosis type 1