Case Report

A Newborn with Beals Syndrome

Authors: Leslye Green, MD, MPH, David Lesser, MD

Abstract

Abstract:We present the case of a newborn with multiple connective tissue abnormalities. Careful examination of the infant and a detailed history from his mother indicated that they were both affected by Beals syndrome (congenital contractural arachnodactyly). A viable-term male infant was delivered to a healthy 30-year-old. The parents had no known history of familial birth defects. After delivery, it was noted that the infant could not extend either elbow past 90°. Further examination revealed a crumpled helix of the ear, ulnar deviation of the fingers, campylodactyly, and hyperextensible ankles. Further questioning revealed that the mother also had hyperflexible wrists and ankles, and several dislocations of both patellae in childhood. She never received a diagnosis or treatment for her condition. A careful examination of newborn deformities and extensive history-taking from the parents can reveal previously unknown genetic traits. Thus, initiating early screening and intervention can positively impact a child's future.

This content is limited to qualifying members.

Existing members, please login first

If you have an existing account please login now to access this article or view purchase options.

Purchase only this article ($25)

Create a free account, then purchase this article to download or access it online for 24 hours.

Purchase an SMJ online subscription ($75)

Create a free account, then purchase a subscription to get complete access to all articles for a full year.

Purchase a membership plan (fees vary)

Premium members can access all articles plus recieve many more benefits. View all membership plans and benefit packages.

References

1. Jones K. Smith's Recognizable Patterns of Human Malformation, 5th edition. Philadelphia, Saunders, 1997, p 476.
 
2. Beals R. The distal arthrogryposes: a new classification of peripheral contractures. Clin Orthop Relat Res 2005;435:203–210.
 
3. Hecht F, Beals R. “New” syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. Pediatrics 1972;49:574–579.
 
4. Beals R, Hecht F. Congenital contractural arachnodactyly. A heritable disorder of connective tissue.J Bone Joint Surg Am 1971;53:987–993.
 
5. Viljoen D. Congenital contractural arachnodactyly (Beals syndrome). J Med Genet 1994;31:640–643.
 
6. Tuncbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome). Orphanet encyclopedia. Available at: http://www.orpha.net/data/patho/GB/uk-BealsSyndrome.pdf.
 
7. The University of Texas Health Science Center at Houston. Congenital contractural arachnodactyly/Beals' Syndrome. Available at:http://www.uth.tmc.edu/schools/med/imed/med_gen/beals.htm.
 
8. Kolble N, Wisser J, Babcock D, et al. Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. Ultrasound Obstet Gynecol 2002;20:395–399.