Four cases of amelia of the upper limb associated with anal atresia - Is this VACTERL with extreme limb involvement?

Clinical Dysmorphology

Volumn 7, Issue 1, 1998, Pages 35-40

  Price, S M ^a   Berry, A C ^b   Raymond, F L ^c   Turnpenny, P ^d   Young, I D ^a  

^a LEICESTER ROYAL INFIRMARY   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^d NOTTINGHAM CITY HOSPITAL   (United Kingdom)

Author keywords

Amelia; Anal atresia; VACTERL association

Indexed keywords

ANUS ATRESIA; ARM MALFORMATION; ARTICLE; CASE REPORT; CHILD; FAMILIAL DISEASE; FEMALE; FETUS; HUMAN; INCIDENCE; LIMB BUD; LIMB DEFECT; LIMB DEVELOPMENT; MALE; PHOCOMELIA; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ANOPHTHALMOS; ANUS, IMPERFORATE; ARM; CHILD; CLEFT LIP; CLEFT PALATE; ECTROMELIA; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; KIDNEY; LARYNX; MALE; UMBILICAL ARTERIES;

EID: 0031965179     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Birch-Jensen A (1949). Congenital Deformities of the Upper Extremities. Copenhagen: Ejnar Munksgaard.
2. Dresher CS, MacDonnell JA (1965). Total amelia. J Bone Joint Surg 47:511 -516.
3. David A, Mercier J, Verloes A (1996). Child with manifestations of nager acrofacial dysostosis, and the MURCS, VACTERL and pulmonary agenesis associations: complex defect of blastogenesis? Am JMed Genet 62:1-5.
4. Evans JA, Vitez M, Czeizel A (1994). Congenital abnormalities associated with limb deficiency defects. Am J Med Genet 49:52-66.
5. Froster-Iskenius UG, Baird PA (1990). Incidence and associated defects in a large population. Teratology 41: 23-31.
6. Froster UG, Baird PA (1992). Limb deficiencies and associated malformations: population-based study. Am J Med Genet 44:767-781.
7. Glass IA, Walford-Moore J, Chapman S, Farndon PA (1994). Ear anomalies, clefting and limb reduction defects: a new autosomal recessive condition? Clin Dysmorph 3:150-156.
8. Gershoni-Baruch R, Grugan A, Bronshtein M, Zimmer EZ (1990). Roberts syndrome or 'X-linked amelia'? Am J Med Genet 37:569-572.
9. Gouw ASH, Elema JD, Bink-Boelkens MThE, de Jongh HJ, ten Kate LP (1985). The spectrum of splenogonadal fusion. EurJPediatr 144:316-323.
10. Halal F (1986). A new syndrome of severe upper limb hypoplasia and mullerian duct anomalies. Am J Med Genet 24:119-126.
11. Khoury MJ, Cordero JF, Greenburg F, James LM, Erickson JD (1983). A population study of the VACTERL association: evidence for its etiologic heterogeneity. Paediatrics 71:815-820.
12. Lenz W, Zygulska M, Horst J (1993). FFU complex: an analysis of 491 cases. Hum Genet 91:347-356.
13. McKusick VA, Weilbaecher RG, Gragg GW (1968). Recessive inheritance of a congenital malformation syndrome: unilateral absence deformity of leg and congenital cataracts. JAMA 204:11-118.
14. McKusick VA (1997). On-line Mendelian Inheritance in Man. : The John Hopkins University Press.
15. Ohdo S, Madokoro H, Sonada T et al. (1987). Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face and developmental retardation. J Med Genet 24:609-612.
16. Richieri-Costa A, Ferrareto I, Masiero D (1987). Amelias report on 26 Brazilian patients - review and comments. Rev Brasil Genet X:385-402.
17. Rodriguez JI, Palacios J, Urioste M, Rodrigeuz-Peralto JL (1991). Tetraphocomelia with multiple malformations: Xlinked amelia, or Roberts syndrome, or DK phocomelia syndrome? Am J Med Genet 43:630-631.
18. Rosenak D, Ariel I, Arnon J et al. (1991). Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs, Am J Med Genet 38:25-28.
19. Temtamy S, McKusick V (1978). The genetics of hand malformations. 5DO4SXIV:41-43.
20. Warkany J (1971). Congenital Malformations. Year Book Medical Publishers p. 949.
21. Weaver D, Mapstone CL, Yu P (1986). The VATER association. Am JDis Child 140:225-229.
22. Winter RM, Baraitser M (1995). London Dysmorphology Database, Oxford: Oxford University Press.
23. Yim DKC, Ebbin AJ (1982). Case report 82. Syn Ident 8: 3-5.
24. Zimmer EZ, Taub E, Sova Y, Divon MY, Pery M, Peretz BA (1985). Tetra-amelia with multiple malformations in six male fetuses in one kindred. Eur J Pediatr 144:412-141.