Cranio-facial skeletal development in three human synophthalmic holoprosencephalic fetuses

Annals of Anatomy

Volumn 180, Issue 1, 1998, Pages 45-53

  Arnold, Wolfgang H ^a   Sperber, Geoffrey H ^b   Machin, Geoffrey A ^c  

^a UNIVERSITY OF WITTEN HERDECKE   (Germany)

^b UNIVERSITY OF ALBERTA   (Canada)

^c The Permanente Company   (United States)

Author keywords

Cranial cartilages; Embryology; Facial cranium; Holoprosencephaly; Mesethmoid; Notochord

Indexed keywords

ARTICLE; CHONDROGENESIS; CHONDROPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL DEVELOPMENT; CYCLOPIA; FETUS; HOLOPROSENCEPHALY; HUMAN; HUMAN TISSUE; NOTOCHORD; SKULL; SKULL BASE; SPHENOID; TECHNIQUE; TISSUE SECTION; TOOTH DEVELOPMENT;

EID: 0031944738     PISSN: 09409602     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0940-9602(98)80131-3     Document Type: Article

References (40)

1. Adelmann HB (1934) A study of cyclopia in Amblystoma punctatum, with special reference to the mesoderm. J Exp Zool 67: 217-281
2. Adelmann HB (1936) The problem of cyclopia. Parts I and II, Quart Rev Bio 11: 161-182, 284-304
3. Adelmann HB (1937) Experimental studies on the development of the eye. IV. The effect of the partial and complete excision of the prechordal substrate on the development of the eyes of Ambystoma punctatum. J Exp Zool 75: 199-237
4. Arnold WH, Sperber GH, Machin GA (1996) Anatomy of the circle of Willis in three cases of human fetal holoprosencephaly. Ann Anat 178: 553-558
5. Cohen MM Jr, Jirásek JE, Guzman RT, Gorlin RJ, Peterson MQ (1971) Holoprosencephaly and facial dysmorphia: Nosology, ethiology and pathogenesis. Birth Defects 7: 125-135
6. Cohen MM, Sulik KK (1992) Perspectives on holoprosencephaly: Part II Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach and experimental studies. J Craniofac Genet Dev Biol 12: 196-244
7. DeMyer W (1971) Classification of cerebral malformations. Birth Defects 7: 78-93
8. DeMeyer W (1977) Holoprosencephaly (Cyclopia-arhinencephaly) In: Vinken PJ, Bruyn GW (eds.) Handbook of Clinical Neurology: Congenital malformations of the brain and skull, Vol 30, Chap 18, Part 1 North-Holland Publishing Co., Amsterdam, pp 431-478
9. Elnison RP and Kao KR (1993) Axis specification and head induction in vertebrate embryos. In: Hanken J, Hall BK (eds.) The skull: Development, Univ Press, Chicago, pp 1-41
10. Fitz CR (1983) Holoprosencephaly and related entities. Neurorarliology 25: 225-238
11. Gorlin RJ, Cohen MM Jr, Levin LSV (1990) Syndromes of the Head and Neck, 3rd ed Univ. Press, Oxford
12. Garrieri F, Trask BJ, Engh van den G, Krauss CM, Schinzel A, Pettenati MJ, Schindler D, Dietz-Band J, Vergaud G, Scherer SW, Tsui LC, Muenke W (1993) Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet 3: 247-251
13. Hinrichsen KV (1990) Embryogenese. In: Hinrichsen KV (ed) Humanembryologie, Heidelberg, New York, Toronto, pp 118-138
14. Johnson VP (1989) Holoprosencephaly: A developmental field defect. Am J Med Genet, 34: 258-264
15. Kjaer I, Keeling JW, Graem N (1994) Midline maxillofacial skeleton in human anencephalic fetuses. Cleft Palate Craniofac J 31: 250-256
16. Krumlauf R (1993) Hox genes and pattern formation in the branchial region of vertebrate head. Trends Genet 9: 106-112
17. Leech RW, Shuman RM (1986) Holoprosencephaly and related cerebral midline anomalies: A review. J Child Neurol 1: 3-18
18. Lehmann FE (1938) Regionale Verschiedenheiten des Organisators von Triton, insbesondere in der vorderen und hinteren Kopfregion, nachgewiesen durch phasenspezifische Erzeugung von Lithiumbedingten und operativ bewirkten Regionaldefekten. Wilhelm Roux' Arch Entwicklungsmech Org, 138: 106-158
19. Le Douarin NM (1983) The neural crest, Cambridge Univ Press, London
20. Lufkin T, Dierich M, LeMeur M, Mark M, Chambon P (1991) Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression. Cell 66: 1105-1119
21. Machin GA, Sperber GH (1996) Computerized graphic imaging for three-dimensional representation: general principles and applications to embryo/fetal development. In: Savin VJ, Wiegmann T (eds) New in vivo and in vitro imaging techniques. Vol 36 of International Review of Experimental Pathology Chap 1 Academic Press Inc, San Diego pp 1-30
22. Marin-Padilla M (1965) Study of the sphenoid bone in human cranioschisis and craniorachischisis. Virchows Arch Pathol Anat 339: 245-253
23. Masui Y (1956) Effect of LiCl on the organizer of the presumptive ectoderm. Ann Zool Japon 29: 341-422
24. Müller F and O'Rahilly R (1989) Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia, in relation to the development of the human forebrain. Am J Anat 185: 391-414
25. Neff AW, Wakahara M, Jurand A, Malacinski GM (1984) Experimental analysis of cytoplasmic rearrangements which follow fertilisation and accompany symmetrization of inverted Xenopus eggs. J Embryol Exp Morphol 80: 197-224
26. Ongaro I, Sperber GH, Machin GA, Murdoch CA (1991) Fiducial points for three-dimensional computer-assisted reconstruction of serial light microscopic sections of umbilical cord. Anat Rec 229: 285-289
27. Overbeeke JJ, Hillen B, Tulleken CAF (1991) A comparative study of the circle of Willis in fetal and adult life. The configuration of the posterior bifurcation of the posterior communicating artery. J Anat 176: 45-54
28. Overbeeke JJ, Hillen B, Vermeij-Keers C (1994) The arterial pattern of the base of arhinencephalic and holoprosencephalic brains. J Anat 185: 51-63
29. Rohen JW (1964) Das Auge und seine Hilfsorgane In: Möllendorff W, Bargmann W (eds) Handbuch der mikroskopischen Anatomie des Menschen, III/4 Springer, Berlin, Heidelberg, New York, Tokyo
30. Ronen GM and Andrews WL (1991) Holoprosencephaly as a possible embryonic alcohol effect. Am J Med Genet 40: 151-154
31. Sadler T (1990) Langman's Medical Embryology, 6th ed., Williams and Wilkins Baltimore, Md
32. Siebert RJ, Cohen MM, Sulik KK, Shaw CM, Lemire RJ (1990) Holoprosencephaly An overview and atlas of cases. Chap 7, Neuropathology, Wiley Liss, New York, pp 148-193
33. Sperber GH, Johnson ES, Honoré L, Machin GA (1987) Holoprosencephalic synophthalmia (Cyclopia) in an 8 week fetus. J Craniofac Genet Dev Biol 7: 7-18
34. Sperber GH (1989) Craniofacial Embryology, 4th ed. Wright, London
35. Sperber GH, Honoré LH, Machin GA (1989) Microscopic study of holoprosencephalic facial anomalies in trisomy 13 fetuses. Am J Med Genet 32: 443-451
36. Sperber GH and Machin GA (1994) The enigma of cephalogenesis. Cleft Palate Craniofac J 31: 91-96
37. Sperber GH, Gorlin RJ (1997) Head and Neck: Craniofacial Abormalities. In: Gilbert-Barness E (ed) Potter's Pathology of the Fetus and Infant Chap 34. Philadelphia, Mosby Year Inc. Philadelphia, pp 1541-1581
38. Vermeij-Keers C, Mazzola RF, van der Meulen JC, Strickler M (1983) Cerebro-craniofacial and craniofacial malformations: An embryological analysis. Cleft Palate Craniofac J 20: 128-145
39. Wachter F, Jacob M (1986) Origin and development of the cranial skeletal muscles In: Christ B, Čihák R (eds) Development and regeneration of skeletal muscles. Bibl Anat 29: 24-46
40. Yamaguci Y and Shinagawa A (1989) Marked alteration of midblastula transition in the effect of lithium on formation of the larval body pattern of Xenopus laevis. Dev Growth Differ 31: 531-541