Clinical and epidemiological findings in patients with central ray deficiency: Split hand foot malformation (SHFM) in Manitoba, Canada

American Journal of Medical Genetics, Part A

Volumn 140, Issue 13, 2006, Pages 1428-1439

  Elliott, Alison M ^a   Reed, Martin H ^a,b,c   Chudley, Albert E ^a,b,c   Chodirker, Bernard N ^a,b,c   Evans, Jane A ^a,b,c  

^a UNIVERSITY OF MANITOBA   (Canada)

^b Department of Radiology ^*  (Canada)

^c CHILDREN S HOSPITAL RESEARCH INSTITUTE OF MANITOBA   (Canada)

Author keywords

Ectrodactyly; Epidemiology; Limb deficiency; Split hand foot malformation (SHFM)

Indexed keywords

APLASIA; ARTICLE; CANADA; CHROMOSOME 5P; CHROMOSOME 9Q; DISEASE CLASSIFICATION; ECTODERMAL DYSPLASIA; ECTRODACTYLY; FEMALE; FIBULA APLASIA; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SPLIT HAND FOOT MALFORMATION; TIBIA APLASIA;

COHORT STUDIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; INCIDENCE; MALE; MANITOBA; PREVALENCE; SYNDACTYLY;

EID: 33745620226     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31245     Document Type: Article

References (29)

1. Aro T, Heinonen OP, Saxen L. 1982. Incidence and secular trends of congenital limb defects in Finland. Int J Epidemiol 11:239-244.
2. Barsky AJ. 1964. Cleft hand: Classification, incidence, and treatment. Review of the literature and report of nineteen cases. J Bone Joint Surg Am 46:1707-1720.
3. Birch-Jensen A. 1949. Congenital deformities of the upper extremities. Copenhagen: Det. Danske Forlag.
4. Calzolari E, Manservigi D, Garani GP, Cocchi G, Magnani C, Milan M. 1990. Limb reduction defects in Emilia Romagna, Italy: Epidemiological and genetic study in 173,109 consecutive births. J Med Genet 27:353-357.
5. Castilla EE, Cavalcanti DP, Dutra MG, Lopez-Camelo JS, Paz JE, Gadow EC. 1995. Limb reduction defects in South America. Br J Obstet Gynaecol 102:393-400.
6. Czeizel A, Evans JA, Kodaj I, Lenz W. 1994. Congenital Limb Deficiencies in Hungary. Budapest: Akademiai Kiado.
7. Elliott AM, Evans JA, Chudley AE, Reed MH. 2004. The duplicated longitudinal epiphysis or "kissing delta phalanx": Evolution and variation in three different disorders. Skeletal Radiol 33:345-351.
8. Evans JA, Reed MH, Greenberg CR. 2002. Fibular aplasia with electrodactyly. Am J Med Genet 113:52-58.
9. Froster UG, Baird PA. 1992. Upper limb deficiencies and associated malformations: A population-based study. Am J Med Genet 44:767-781.
10. Froster UG, Baird PA. 1993. Congenital defects of lower limbs and associated malformations: A population based study. Am J Med Genet 45:60-64.
11. Froster-Iskenius UG, Baird PA. 1989. Limb reduction defects in over one million consecutive livebirths. Teratology 39:127-135.
12. Galan IR, Toral JF, Lopez EG, Bayon CM, Tenreiro CM, Fernandez AR, Menendez ES, Hevia FA, Fernandez AF. 2000. Defectos de reduccion de extremidades en Asturias, 1986-1997: Prefalencia y presentacion clinica. Ann Espanoles de Pediatria 52:94-100.
13. Graham JM Jr. 1986. Causes of limb reduction defects: The contribution of fetal constraint and/or vascular disruption. Clin Perinatol 13:575-591.
14. Hoyme HE, Van Allen MI, Jones KL. 1983. The vascular pathogenesis of some sporadically occurring limb defects. Semin Perinatol 7:299-306.
15. Kelikian H. 1974. Congenital deformities of the hand and forearm. Philadelphia: W.B. Saunders Company.
16. Lange M. 1937. Grundsatzlicher uber die Beurteilung der Entstehung und Bewertung atypisher Hand- und Fussmissbildungen. Z Orthop 66:80.
17. Leung PC, Chan KM, Cheng JC. 1982. Congenital anomalies of the upper limb among the Chinese population in Hong Kong. J Hand Surg [Am] 7:563-565.
18. Lin S, Marshall EG, Davidson GK, Roth GB, Druschel CM. 1993. Evaluation of congenital limb reduction defects in upstate New York. Teratology 47:127-135.
19. McGuirk CK, Westgate MN, Holmes LB. 2001. Limb deficiencies in newborn infants. Pediatrics 108:E64.
20. Miura T. 1976. Syndactyly and split hand. Hand 8:125-130.
21. Morey MA, Higgins RR. 1990. Ectro-amelia syndrome associated with an interstitial deletion of 7q. Am J Med Genet 35: 95-99.
22. Ogino T. 1979. A clinical and experimental study on teratogenic mechanism of cleft hand, polydactyly and syndactyly (author's transl). Nippon Seikeigeka Gakkai Zasshi 53:535-543.
23. Ogino T. 1990. Teratogenic relationship between polydactyly, syndactyly and cleft hand. J Hand Surg [Br] 15:201-209.
24. Ozen RS, Baysal BE, Devlin B, Farr JE, Gorry M, Ehrlich GD, Richard CW. 1999. Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: Evidence for anticipation and segregation distortion. Am J Hum Genet 64:1646-1654.
25. Rogala EJ, Wynne-Davies R, Littlejohn A, Gormley J. 1974. Congenital limb anomalies:frequency and aetiological factors. Data from the Edinburgh register of the newborn (1964-68). J Med Genet 11:221-233.
26. Spranger M, Schapera J. 1988. Anomalous inheritance in a kindred with split hand, split foot malformation. Eur J Pediatr 147:202-205.
27. Stoll C, Calzolari E, Cornel M, Garcia-Minaur S, Garne E, Nevin N, Ten Kate L. 1996. A study on limb reduction defects in six European regions. Ann Genet 39:99-104.
28. Swanson AB. 1976. A classification for congenital limb malformations. J Hand Surg [Am] 1:8-22.
29. Tackels-Horne D, Toburen A, Sangiorgi E, Gurrieri F, de MX, Fischetto R, Causio F, Clarkson K, Stevenson RE, Schwartz CE. 2001. Split hand/split foot malformation with hearing loss: First report of families linked to the SHFM1 locus in 7q21. Clin Genet 59:28-36.