Mandibulofacial dysostosis (Treacher Collins syndrome): A new proposal for its pathogenesis

Wiley - Tập 27 Số 2 - Trang 359-372 - 1987
Kathleen K. Sulik1,2, Malcolm C. Johnston1,3, Scott Smiley4, Holly Speight4, Bennie E. Jarvis5, John M. Opitz, James F. Reynolds
1Department of Anatomy, University of North Carolina at Chapel Hill
2Department of Ophthalmology University of North Carolina at Chapel Hill
3Department of Orthodontics and Dental Research Center, University of North Carolina at Chapel Hill
4School of Dentistry, University of North Carolina at Chapel Hill
5Department of Surgery, University of West Virginia, Morgantown, West Virginia

Tóm tắt

AbstractAcute exposure to 400 mg/kg 13‐cis retinoic acid (13‐cis F U, isotretinoin, Accutane®) on the ninth day postfertilization in mice (a time that corresponds to the fourth week postfertilization in humans) results in malformations that characterize mandibulofacial dysostosis (MFD, Treacher Collins syndrome). Deficiencies in the infraorbital region and in the mandibular ramus and condyle, abnormalities of the secondary palate, and external ear malformations were observed. Light and scanning electron microscopic analyses of affected embryos illustrate that within 12 hours of maternal 13‐cis RA treatment, markedly excessive (possibly premature) cell death occurs in regions where some of the cells are normally destined to undergo programmed cell death. Previous studies with retinoids have shown that they labilize lysosomal membranes and expand and strengthen regions of programmed cell death. Of particular interest for this study was cell death occurring in the dorsal (proximal) aspects of the maxillary and mandibular prominences of the first visceral arch, the second visceral arch, and the first visceral cleft, areas that correspond to the locations of the first and second arch ectodermal (“ganglionic”) placodes and first closing membrane, respectively. The derivatives of this region are those that are severely affected in MFD. As described in previous reports from this laboratory, 13‐cis RA is known to interfere with neural crest cells, resulting in major craniofacial malformations. However, the exposure times involved were earlier than those described herein. It is hypothesized that effects on the first and second arch ectodermal placodal cells at a time following the release from the neural folds of neural crest cells into the developing cranial region are of great significance in the pathogenesis of MFD. This is in contrast to the prevailing hypothesis that these malformations are the direct result of a primary interference with neural crest cells.

Từ khóa


Tài liệu tham khảo

Behrents RG, 1977, Prenatal mandibulofacial dysostosis (Treacher CoIIins syndrome), Cleft Palate J, 14, 13

Chevallier A, 1977, Limb‐somite relationship: Origin of the limb musculature, J Embryol Exp Morphol, 41, 245

10.1002/aja.1001660406

Gorlin RJ, 1976, Syndromes of the Head and Neck, 453

10.1002/ajmg.1320030303

Hinchliffe JR, 1973, Cell death and the development of limb form and skeletal pattern in normal and wingless (ws) chick embryos, J Embryol Exp Morphol, 30, 753

Inouye M, 1976, Differential staining of cartilage and bone in fetal mouse skeleton by alcian blue and alizarin red S, Cong Anom, 16, 171

10.1111/j.1365-2230.1978.tb01482.x

Jarvis BL, 1985, Isotretinoin‐induced ear malformations in mice, Teratology, 31, 27

Johnston MC, 1972, Oral Sensory Perception: The Mouth of the Infant, 76

Johnston MC, 1985, Altered mouse neural crest development resulting from 13‐cis‐retinoic acid (Accutane®) administration to mice, Cell Diff, 16, 1145

Johnston MC, 1985, Isotretinoin embryopathy in a mouse model: Cranial neural crest involvement, Teratology, 31, 26

10.1111/j.1749-6632.1960.tb49947.x

Kollar EJ, 1979, Tooth morphogenesis: The roie of the innervation during induction and pattern formation, J Biol Buccale, 7, 49

10.1056/NEJM198510033131401

10.1111/1523-1747.ep12598332

Marks R, 1933, Retinoid Therapy, 91

Morriss GM, 1973, The ultrastructural effects of excess maternal vitamin A on the primitive streak stage rat embryo, J Embryol Exp Morphol, 30, 219

Nichols DH, 1981, Neural crest formation in the head of mouse embryos as observed using a new histological technique, J Embryol Exp Morphol, 64, 105

10.1002/aja.1001760210

10.1002/aja.1001760103

10.1016/S0301-0503(74)80018-4

10.1016/S0007-1226(64)80020-5

Sando I, 1968, Histopathology of the temporal bones in mandibulofacial dysostosis, Trans Am Acad Ophthalmol Otolaryngol, 72, 913

Schweichel JU, 1971, The influence of oral Vitamin A doses on interdigital necrosis in the limb bud of the rat, Teratology, 4, 501

10.1002/tera.1420070306

10.1002/tera.1420050115

Smith DW, 1982, Recognizable Patterns of Human Malformation, 184

10.1002/ar.1091950201

Sulik KK, 1986, Retinoic acid embryopathy: Recently introduced drug causes predictable craniofacial malformations, J Dent Res, 65, 167

Sulik KK, 1986, Teratogenic effects of 13‐cis‐retinoic acid on migratory cell populations in vivo, Teratology, 33, 48C

Sulik KK, 1987, Retinoic acid‐induced craniofacial malformations: New insights from an oid teratogen, Proc Greenwood Genetic Center, 6, 116

10.1007/BF00222353

Theiler K, 1972, The House Mouse

Van Exan NR, 1980, A spatial reiationship between innervation and the early differentiation of vibrissa follicles in the embryonic mouse, J Anat, 131, 643

10.1007/978-3-642-67411-2

10.1163/002829680X00041

Webster WS, 1985, Isotretinoin embryopathy: The effects of isotretinoin and 4‐oxo‐isotretinoin on postunplantation rat embryos in vitro, Teratology, 31, 59A

Webster WS, 1986, Isotretinoin embryopathy and the cranial neural crest: An in vivo and in vitro study, J Craniofac Genet Dev Biol, 6, 211

10.1159/000145741

Thông tin
Thông tin xuất bản

Wiley

Tập 27 Số 2

359-372

Thông tin tác giả