Malformations of cranial base structures and pituitary gland in prenatal Meckel syndrome

APMIS

Volumn 107, Issue 10, 1999, Pages 937-944

  Kjær, Klaus Wilbrandt ^a   Hansen, Birgit Fischer ^a   Keeling, Jean W ^b   Nolting, Dorrit ^d   Kjær, Inger ^c  

^a HVIDOVRE HOSPITAL   (Denmark)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d NONE

Author keywords

Clivus; Cranial base; Fetal; Meckel syndrome; Notochord; Pituitary gland; Sella turcica

Indexed keywords

ADENOHYPOPHYSIS; ARTICLE; CLINICAL ARTICLE; CLIVUS; CONTROLLED STUDY; ECTOPIC TISSUE; FETUS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MECKEL SYNDROME; NEUROHYPOPHYSIS; PRIORITY JOURNAL; RADIODIAGNOSIS; SELLA TURCICA; SKULL BASE; TRISOMY 18;

EID: 0032707748     PISSN: 09034641     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1699-0463.1999.tb01494.x     Document Type: Article

References (24)

1. 1. Meckel JF. Beschreibung zweier, durch sehr ähnliche Bildungsabweichungen entstellter Geschwister. Dtsch Arch Physiol 1822;7:99-172.
2. 2. Opitz JM, Howe JJ. The Meckel syndrome (dysencephalia splanchnocystica, the Gruber syndrome). In: Bergsma D, editor. Malformation syndromes. New York: The National Foundation, 1969:167-79.
3. 3. Salonen R, Paavola P. Meckel syndrome. J Med Genet 1998;35:497-501.
4. 4. Hsia YE, Bratu M, Herbordt A. Genetics of the Meckel syndrome (dysencephalia splanchnocystica). Pediatrics 1971;48:237-47.
5. 5. Farag TI, Usha R, Uma R, Mady SA, Al-Nagdy K, El-Badramany MH. Phenotypic variability in Meckel-Gruber syndrome. Clin Genet 1990;38: 176-9.
6. 6. Lurie IW, Lazjuk GI, Korotkova IA, Cherstvoy ED. The cerebro-reno-digital syndromes: a new community. Clin Genet 1991;39:104-13.
7. 7. Paavola P, Salonen R, Weissenbach J, Peltonen L. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-24. Nat Genet 1995;11:213-5.
8. 8. Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, et al. Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet 1997;101:88-92.
9. 9. Roume J, Ma HW, Merrer ML, Cormier-Daire V, Girlich E, Genin E, et al. Genetic heterogeneity of Meckel syndrome. J Med Genet 1997; 34:1003-6.
10. 10. Young ID, Rickett AB, Clarke M. High incidence of Meckel syndrome in Gujarati Indians. J Med Genet 1985;22:301-4.
11. 11. Fried K. Relatively high prevalence of the Meckel syndrome among Jews. Isr J Med Sci 1973; 9:1399.
12. 12. Coard KCM, Escoffery CT. Meckel-Gruber syndrome, a lethal combination of abnormalities. W I Med J 1990;39:52-6.
13. 13. Lowry RB, Hill RH, Tischler B. Survival and spectrum of anomalies in the Meckel syndrome. Am J Med Genet 1983;14:417-21.
14. 14. Kjær KW, Fischer Hansen B, Keeling JW, Kjær I. Skeletal malformations in fetuses with Meckel syndrome. Am J Med Genet 1999;84:469-75.
15. 15. Kjær I, Græm N. Simple autopsy method for analysis of complex fetal cranial malformations. Pediatr Pathol 1990;10:717-27.
16. 16. Kjær I, Fischer-Hansen B. The adenohypophysis and the cranial base in early human development. J Craniofac Genet Dev Biol 1995;15:157-61.
17. 17. Müller F, O'Rahilly R. The human chondrocranium at the end of the embryonic period proper with particular reference to the nervous system. Am J Anat 1980;159:33-58.
18. 18. Kjær I. Neuro-osteology. Crit Rev Oral Biol Med 1998;9:224-44.
19. 19. Kawamura K, Kikuyama S. Morphogenesis of the hypothalamus and hypophysis: their association, dissociation and reassociation before and after "Rathke". Arch Histol Cytol 1998;61:189-98.
20. 20. Mamdouha A, Claassen D. A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. J Neuropathol Exp Neurol 1990;49:610-20.
21. 21. Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 1984;18:671-89.
22. 22. Kjær I, Becktor KB, Nolting D, Fischer Hansen B. The association between prenatal sella turcica morphology and notochordal remnants in the dorsum sellae. J Craniofac Genet Dev Biol 1997;17:105-11.
23. 23. Kjær I, Keeling JW, Fischer Hansen B. Pattern of malformations in the axial skeleton in human trisomy 18 fetuses. Am J Med Genet 1996; 65:332-6.
24. 24. Kjær I, Keeling JW, Reintoft I, Hjalgrim H, Nolting D, Fischer Hansen B. Pituitary gland and sella turcica in human trisomy 18 fetuses. Am J Med Genet 1998;76:87-92.