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Congenital malformations - Edocr

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CHAPTER 47 ARTHROGRYPOSIS 329<br />

unknown etiology, a couple with a child with this<br />

disorder has no increased risk over the general<br />

population risk. 11 In the absence of a clear etiology,<br />

Hall and Reed reported the recurrence risk<br />

as 4.7% if only the limbs were involved, 1.4% if<br />

the limbs plus other areas were involved, and 7%<br />

if the central nervous system was involved. 19 In<br />

absence of a complete workup and a specific<br />

diagnosis, the recurrence risk of having another<br />

affected child is reported to be about 3–5%. 6<br />

Serial ultrasounds can identify an affected fetus<br />

in early second trimester in many cases.<br />

REFERENCES<br />

1. Darin N, Kimber E, Kroksmark AK, et al. Multiple<br />

congenital contractures: birth prevalence, etiology,<br />

and outcome. J Pediatr. Jan 2002;140(1):61–7.<br />

2. Silberstein EP, Kakulas BA. Arthrogryposis multiplex<br />

congenita in Western Australia. J Paediatr<br />

Child Health. Dec 1998;34(6):518–23.<br />

3. Wynne-Davies R, Williams PF, O’Connor JC. The<br />

1960s epidemic of arthrogryposis multiplex congenita:<br />

a survey from the United Kingdom, Australia,<br />

and the United States of America. J Bone Joint Surg<br />

Br. Feb 1981;63-B(1):76–82.<br />

4. Hall JG. Genetic aspects of arthrogryposis.<br />

Clin Orthop Relat Res. Apr 1985(194):44–53.<br />

5. Hall JG. Arthrogryposis multiplex congenita: etiology,<br />

genetics, classification, diagnostic approach,<br />

and general aspects. J Pediatr Orthop B. Jul 1997;<br />

6(3):159–66.<br />

6. Wong V. The spectrum of arthrogryposis in 33<br />

Chinese children. Brain Dev. Apr 1997;19(3):187–96.<br />

7. Aroojis AJ, King MM, Donohoe M, et al. <strong>Congenital</strong><br />

vertical talus in arthrogryposis and other contractural<br />

syndromes. Clin Orthop Relat Res. May 2005(434):<br />

26–32.<br />

8. Steinberg B, Nelson VS, Feinberg SE, et al. Incidence<br />

of maxillofacial involvement in arthrogryposis multiplex<br />

congenita. J Oral Maxillofac Surg. Aug 1996;<br />

54(8):956–9.<br />

9. Paugh DR, Koopmann CF Jr, Babyak JW. Arthrogryposis<br />

multiplex congenita: otolaryngologic<br />

diagnosis and management. Int J Pediatr Otorhinolaryngol.<br />

Oct 1988;16(1):45–53.<br />

10. Mennen U, van Heest A, Ezaki MB, et al. Arthrogryposis<br />

multiplex congenita. J Hand Surg [Br].<br />

Oct 2005;30(5):468–74.<br />

11. Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most<br />

common type of arthrogryposis: the potential for<br />

good outcome. Pediatrics. Feb 1996;97(2):225–31.<br />

12. Bernstein RM. Arthrogryposis and amyoplasia.<br />

J Am Acad Orthop Surg. Nov–Dec 2002;10(6):417–24.<br />

13. Bamshad M, Jorde LB, Carey JC. A revised and extended<br />

classification of the distal arthrogryposes.<br />

Am J Med Genet. Nov 1996;65(4):277–81.<br />

14. Beals RK. The distal arthrogryposes: a new classification<br />

of peripheral contractures. Clin Orthop Relat Res.<br />

Jun 2005(435):203–10.<br />

15. Fedrizzi E, Botteon G, Inverno M, et al. Neurogenic<br />

arthrogryposis multiplex congenita: clinical and MRI<br />

findings. Pediatr Neurol. Sep–Oct 1993; 9(5):343–8.<br />

16. Hageman G, Willemse J, van Ketel BA, et al. The<br />

pathogenesis of fetal hypokinesia. A neurological<br />

study of 75 cases of congenital contractures with<br />

emphasis on cerebral lesions. Neuropediatrics.<br />

Feb 1987;18(1):22–33.<br />

17. Bianchi DW, Van Marter LJ. An approach to<br />

ventilator-dependent neonates with arthrogryposis.<br />

Pediatrics. Nov 1994;94(5):682–6.<br />

18. Robinson RO. Arthrogryposis multiplex congenita;<br />

feeding, language, and other health problems.<br />

Neuropediatrics. Nov 1990;21(4):177–8.<br />

19. Hall JG, Reed SD. Teratogens associated with congenital<br />

contractures in humans and in animals.<br />

Teratology. Apr 1982;25(2):173–91.

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