Yonsei Med J.  2005 Aug;46(4):567-570. 10.3349/ymj.2005.46.4.567.

Amyoplasia Congenita of the Lower Extremity: Report in a Premature Baby

• Lee HS

• KMID: 1716529
• DOI: http://doi.org/10.3349/ymj.2005.46.4.567

Abstract

Amyoplasia congenita is a diagnostic subgroup of children with arthrogryposis multiplex congenita (AMC). AMC is a relatively rare syndrome characterized by multiple joint contractures at birth. Amyoplasia congenita is the most common type of this syndrome with an occurrence rate of 1 in 10, 000 live births, and mainly refers to the disorders with limb involvement. In this report, the author presents a premature baby with amyoplasia congenita, whose hips showed flexion, abduction, and external rotation contractures. The knees showed fixed extension contractures, so that his lower extremities were cylindrical with absent skin creases at birth.

Keyword

Arthrogryposis multiplex congenita; amyoplasia congenita

MeSH Terms

Adult
Arthrogryposis/*physiopathology/therapy
Female
Humans
Infant, Newborn
Infant, Premature
Lower Extremity
Male

Figure

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  Fig. 1 Arthrogryposis affecting the hips and knees. The baby had fixed hyperextended knees and fixed flexed hips. The trunk and upper extremities were not involved.

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  Fig. 2 Featureless lower extremities that are cylindrical with thin subcutaneous tissue and lack skin creases.

Reference

1. Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997. 6:159–166.

2. Kulaylat NA, Narchi H, Walter W, Tunnessen Jr. Amyoplasia congenita. Arch Pediatr Adolesc Med. 2001. 155:407–408.

3. William P. The management of arthrogryposis. Orthop Clin North Am. 1978. 9:67–88.

4. Gordon N. Arthrogryposis multiplex congenita. Brain Dev. 1998. 20:507–511.

5. Thompson GH, Bilenker RM. Comprehensive management of arthrogryposis multiplex congenita. Clin Orthop. 1985. 194:6–14.

6. Hall JG. Arthrogryposis. Am Fam Physician. 1989. 39:113–119.

7. Hall JG, Reed SD, McGillivray B, Herrmann J, Partington MW, Schinzel A, et al. Part II. Amyoplasia: Twining in amyoplasia- a specific type of arthrogryposis with an apparent excess of discordantly identical twins. Am J Med Gent. 1983. 12:377–409.

8. Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most common type of arthrogryposis: the pathophysiology for good outcome. Pediatr. 1996. 97:225–231.

9. Hall JG, Reed SD, Driscoll EP. Amyoplasia : a common sporadic condition with congenital contractures. Am J Med Genet. 1983. 15:571–590.

10. Brown LM, Robson MJ, Sharrard WJW. The pathophysiology of arthrogryposis multiplex congenita neurologica. J Bone Joint Surg Br. 1980. 62:291–296.

11. Drachman DB, Banker BQ. Arthrogryposis multiplex congenita. Arch Neurol. 1961. 5:77–93.