Congenital contractural arachnodactyly suspected by abnormally long extremities by fetal ultrasound

BMJ Case Rep. 2021 Mar 1;14(3):e237904. doi: 10.1136/bcr-2020-237904.


Congenital contractural arachnodactyly (CCA) is a rare disease with the clinical features of limited extension of multiple joints, arachnodactyly, camptodactyly, thin and long extremities, and so on. In the point of long extremities, CCA resembles Marfan syndrome (MFS). CCA is easily differentiated from MFS after birth due to the flexion of multiple joints, including elbows, knees, hips and fingers. During the fetal period, observation of arachnodactyly and folded fingers by fetal ultrasound is the means of differential diagnosis between these two diseases. We report on a case of CCA diagnosed with prenatal symptoms of long extremities, and introduced physiotherapy in early childhood for a better physical prognosis.

Keywords: congenital disorders; pregnancy.

Publication types

  • Case Reports

MeSH terms

  • Arachnodactyly* / diagnostic imaging
  • Child, Preschool
  • Contracture*
  • Female
  • Humans
  • Marfan Syndrome*
  • Pregnancy
  • Ultrasonography, Prenatal

Supplementary concepts

  • Congenital contractural arachnodactyly