You are here

Article Text

Article menu
Download PDFPDF
Electronic letter
Distal arthrogryposis: a new type with distinct facial appearance and absent teeth
  1. Rodney K Bealsa,
  2. Stephen LaFranchib
  1. aDepartment of Orthopedics and Rehabilitation, OP31, Oregon Health Sciences University, 3181 SW Sam Jackson Park Road, Portland, OR 97201-3098, USA, bDepartment of Pediatrics, NRC-5, Oregon Health Sciences University, 3181 SW Sam Jackson Park Road, Portland, OR 97201-3098, USA
  1. Dr Beals bealsr{at}ohsu.edu

https://doi.org/10.1136/jmg.38.7.e22

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Editor—The distal arthrogryposes are a group of inherited disorders with congenital contractures of the distal extremities. A father and daughter with similar distal extremity contractures, distinct facial features, depressed coronal sutures, and congenitally absent teeth characterise a new type of distal arthrogryposis.

    Case report

    An 11 year old girl was seen for evaluation of finger contractures. She had been noted at birth to have finger contractures and a “puffy face” (fig 1). Her birth weight was 4077 g and her length was 51 cm. At 11 months of age she had “trigger finger” releases of her fifth digits with some improvement. She was diagnosed at the age of nine with attention deficit disorder and treated with Ritalin. At the age of 10 she was treated by release of contracture and tendon balancing procedure of the right little finger. The left little finger was treated with a splint. There was no clinical evidence of neurological or muscle disease. She was at the 50th centile in height until 9 years when the rate of growth decreased.

    Figure 1

    AP photographs of the proband at birth (A), aged 11 (B), and of her father (C) showing small, horizontal palpebral fissures, broad base of the nose, and cupid's bow configuration of the upper lip. Depression of the coronal fissure is palpable but not seen in the photograph.

    Examination at 11 years showed a head circumference …

    View Full Text