Pattern of malformations in the axial skeleton in human trisomy 13 fetuses

American Journal of Medical Genetics

Volumn 70, Issue 4, 1997, Pages 421-426

  Kjær, Inger ^a   Keeling, Jean W ^b   Hansen, Birgit Fischer ^c  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c HVIDOVRE HOSPITAL   (Denmark)

Author keywords

Chromosome; Cranial base; Nasal bone; Notochord; Radiography; Vertebra

Indexed keywords

ARTICLE; BONE RADIOGRAPHY; CHROMOSOME 13; CHROMOSOME ABERRATION; FACIAL BONE; FETUS; GESTATIONAL AGE; HUMAN; NOTOCHORD; PRIORITY JOURNAL; SKELETON MALFORMATION; SKULL BASE; THORACIC SPINE; TRISOMY 13; TRISOMY 21;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; FETUS; HUMANS; MALE; NASAL BONE; PREGNANCY; SKULL BASE; SPINE; TRISOMY;

EID: 0030977969     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970627)70:4<421::AID-AJMG17>3.0.CO;2-J     Document Type: Article

References (31)

1. Butler LJ, Resis HE, France NE, Briddon S (1973): Antenatal diagnosis of Patau's syndrome (trisomy 13) including a detailed pathological study of the fetus. J Med Genet 10:367-370.
2. Colacino SC, Pettersen JC (1978): Analysis of the gross anatomical variations found in four cases of trisomy 13. Am J Med Genet 2:31-50.
3. Fujinaga M, Shepard TH, Fitzsimmons J (1990): Trisomy 13 in the fetus. Teratology 41:233-238.
4. Gilbert EF, Opitz JM (1982): Developmental and other pathologic changes in syndromes caused by chromosome abnormalities. Perspect Pediatr Pathol 7:1-63.
5. Greenberg F, Carpenter RJ, Ledbetter DH (1983): Cystic hygroma and hydrops fetalis in a fetus with trisomy 13. Clin Genet 24:389-391.
6. Jacobs PA, Hassold TJ, Henry A, Pettay D, Takaesu N (1987): Trisomy 13 ascertained in a survey of spontaneous abortions. J Med Genet 24:721-724.
7. Keeling JW (1994): "Fetal Pathology." London: Churchill, Livingstone, pp 20-23.
8. Keeling JW, Kjær I (1994): Diagnostic distinction between anencephaly and amnion rupture sequence based on skeletal analysis. J Med Genet 31:823-829.
9. Keeling JW, Fischer Hansen B, Kjær I (1997): Pattern of malformations in the axial skeleton in human trisomy 21 fetuses. Am J Med Genet 68: 466-471.
10. Kjær I (1974): Skeletal maturation of the human fetus assessed radiographically on the basis of ossification sequences in the hand and foot. Am J Phys Anthropol 40:257-276.
11. Kjær I (1990a): Ossification of the human fetal basicranium. J Craniofac Genet Dev Biol 10:29-38.
12. Kjær I (1990b): Radiographic determination of prenatal basicranial ossification. J Craniofac Genet Dev Biol 10:113-123.
13. Kjær I (1994): The prenatal axial skeleton as marker of normal and pathological development of the human central nervous system. In Lou HC, Greisen G, Larsen JF (eds): "Brain Lesions of the Newborn" (Alfred Benzon Symposium #37). Copenhagen: Munksgaard, pp 124-132.
14. Kjær I, Fischer Hansen B (1995a): Postmortem axial skeletal radiography can reveal fetal CNS malformation. APMIS 103:574-581.
15. Kjær I, Fischer Hansen B (1995b): Human fetal pituitary gland in holoprosencephaly and anencephaly. J Craniofac Genet Dev Biol 15:222-229.
16. Kjær I, Keeling JW, Fischer Hansen B (1996): Pattern of malformations in the axial skeleton in human trisomy 18 fetuses. Am J Med Genet. 65:332-336.
17. Kjær I, Fischer Hansen B, Keeling JW (1996): The axial skeleton and the pituitary gland in human fetuses with spina bifida and cranial encephalocele. Pediatr Pathol 16:909-926.
18. Kjær I, Keeling JW, Græm N (1991): The midline craniofacial skeleton in holoprosencephalic fetuses. J Med Genet 28:846-855.
19. Kjær I, Keeling JW, Græm N (1994): Cranial base and vertebral column in human anencephalic fetuses. J Craniofac Genet Dev Biol 14:235-244.
20. Kjær I, Kjær TW, Græm N (1993): Ossification sequence of occipital bones and vertebrae in human fetuses. J Craniofac Genet Dev Biol 13:83-88.
21. Kyrkanides S, Kjær I, Fischer Hansen B (1993): Development of the basilar part of the occipital bone in normal human fetuses. J Craniofac Genet Dev Biol 13:184-192.
22. Marin-Padilla M, Hoefnagel D, Benirschke K (1964): Anatomic and histpathologic study of two cases of D1 (13-15) trisomy. Cytogenesis 3:258-284.
23. McKeown CME, Donnai D (1986): Prune belly in trisomy 13. Prenat Diagn 6:379-381.
24. Mottet NK, Jensen H (1965): The anomalous embryonic development associated with trisomy 13-15. Am J Clin Pathol 43:334-347.
25. Nakazato Y, Gilsanz V, Falk RE (1985): Fetal cystic hygroma, web neck and trisomy 13 syndrome. Br J Radiol 58:1011-1013.
26. Opitz JM, Herrmann J, Pettersen JC, Bersu ET, Colacino SC (1979): Terminological, diagnostic, nosological, and anatomical developmental aspects of developmental defects in man. In "Advances in Human Genetics." New York: Plenum Press, pp 71-165.
27. Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP (1960): Multiple congenital anomaly caused by an extra autosome. Lancet 1:790-793.
28. Pettersen JC, Koltis GG, White MJ (1979): An examination of the spectrum of anatomic defects and variations found in eight cases of trisomy 13. Am J Med Genet 3:183-210.
29. Sandickioglu M, Mølsted K, Kjær I (1994): The prenatal development of the human nasal and vomeral bones. J Craniofac Genet Dev Biol 14:124-134.
30. Snodgrass GJAI, Butler LJ, France NE, Crome L, Russell A (1966): The "D" (13-15) trisomy syndrome: An analysis of 7 examples. Arch Dis Childh 41:250-261.
31. Taylor AI (1968): Autosomal trisomy syndromes: A detailed study of 27 cases of Edward's syndrome and 27 cases of Patau's syndrome. J Med Genet 5:227-252.