Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies

American Journal of Medical Genetics

Volumn 83, Issue 5, 1999, Pages 372-377

  Brodle, Steven G ^a   Lachman, Ralph S ^a,b   McGovern, Margaret M ^c   Mekikian, Pertchoui B ^a   Wilcox, William R ^a,b,d  

^a BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c STONY BROOK UNIVERSITY   (United States)

^d CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Inclusion bodies; Lethal skeletal dysplasia; Osteosclerosis

Indexed keywords

ARTICLE; AUTOPSY; BONE DEFECT; BONE DENSITY; BONE DYSPLASIA; CARTILAGE CELL; CASE REPORT; CELL INCLUSION; FEMALE; FETUS; HISTOPATHOLOGY; HUMAN; OSTEOSCLEROSIS; PRIORITY JOURNAL; RADIOGRAPHY; SCANNING ELECTRON MICROSCOPY;

ABNORMALITIES, MULTIPLE; BONE AND BONES; CARTILAGE; FEMALE; FEMUR; FETAL DEATH; FETUS; HUMANS; INCLUSION BODIES; MICROSCOPY, ELECTRON; MICROSCOPY, ELECTRON, SCANNING; OSTEOSCLEROSIS;

EID: 0033597182     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990423)83:5<372::AID-AJMG6>3.0.CO;2-J     Document Type: Article

References (31)

1. Al Gazali LI, Devadas K, Hall CM. 1996. A new lethal neonatal short limb dwarfism. Clin Dysmorphol 5:159-164.
2. Al Mane KA, Coates RK, McDonald P. 1996. Intracranial calcification in Raine syndrome. Pediatr Radiol 26:55-58.
3. Blömstrand I, Claesson I, Save-Soderbergh J. 1985. A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 15:141-143.
4. Brodie SG, Lachman RS, Crandall BF, Fox MA, Rimoin DL, Cohn DH, Wilcox WR. 1998. Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II. Am J Med Genet 80:247-251.
5. Camera G, Giordano F, Mastroiacovo P. 1986. Pyknoachondrogenesis: An association of skeletal defects resembling achondrogenesis with generalized bone sclerosis. A new condition? Clin Genet 30:335-337.
6. Chitayat D, Gruber H, Mullen BJ, Pauzner D, Costa T, Lachman R, Rimoin DL. 1993. Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. Am J Med Genet 47:272-277.
7. Colavita N, Kozlowski K. 1984. Neonatal death dwarfism - a new form. Pediatr Radiol 14:451-452.
8. Gelb BD, Shi GP, Chapman HA, Desnick RJ. 1996. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273:1236-1238.
9. Hart TC, Bowden DW, Bolyard J, Kula K, Hall K, Wright JT. 1997. Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. Hum Mol Genet 13:2279-2284.
10. Horton WA, Rimoin DL, Hollister DW, Lachman RS. 1979. Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types. J Pediatr 94:736-742.
11. Jobert A-S, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M. 1998. Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blömstrand chondrodysplasia. J Clin Invest 102:34-40.
12. Johnson ML, Goudong G, Kimberling W, Recker SM, Kimmel DB, Recker RR. 1997. Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13). Am J Hum Genet 60:1326-1332.
13. Kan AE, Kozlowski K. 1992. New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet 43:860-864.
14. Kozlowski K, Tsuruta T. 1989. Dysplastic cortical hyperostosis: a new form of lethal neonatal dwarfism. Br J Radiol 62:376-378.
15. Kozlowski K, Tsuruta T, Taki N, Tsunoda I, Ozawa H, Hasegawa T, Sillence D. 1986. A new type of achondrogenesis. Pediatr Radiol 16:430-432.
16. Martínez-Frías ML, Bermejo E, Urioste M, Huertas H, Arroyo I. 1993. Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum. J Med Genet 30:937-941.
17. Müller D, Kozlowski K, Sillence D. 1992. Lethal micromelic facial bones sclerosis dysplasia. Br J Radiol 65:1137-1139.
18. Nairn ER, Chapman S. 1989. A new type of lethal short-limbed dwarfism. Pediatr Radiol 19:253-257.
19. Peeden JN, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE. 1992. Spondylometaphyseal dysplasia, Sedaghatian type. Am J Med Genet 44:651-656.
20. Perri G. 1978. A severe form of metatropic dwarfism. Pediatr Radiol 7:183-185.
21. Raine J, Winter RM, Davey A, Tucker SM. 1989. Unknown syndrome: Microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Med Genet 26:786-788.
22. Sedaghatian MR. 1980. Congenital lethal metaphyseal chondrodysplasia: A newly recognized complex autosomal recessive disorder. Am J Med Genet 6:269-274.
23. Seller MJ, Berry AC, Maxwell D, McLennan A, Hall CM. 1996. A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density. Clin Dysmorphol 5:213-215.
24. Sly WS, Hu PY. 1995. The carbonic anhydrase II deficiency syndrome: Osteopetrosis with renal tubular acidosis and cerebral calcification. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill. p 4113-4124.
25. Spranger J, Maroteaux P. 1990. The lethal osteochondrodysplasias. Adv Hum Genet 19:1-45.
26. Taybi H, Lachman RS. 1996. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 4th ed. St. Louis: Mosby-Year Book, Inc.
27. Van Hul W, Bollerslev J, Gram J, Van Hul E, Wuyts W, Benichou O, Vanhoenacker F, Willems PJ. 1997. Localization of a gene for autosomal dominant osteopetrosis (Albers-Schonberg disease) to chromosome 1p21. Am J Hum Genet 61:363-369.
28. Van Hul W, Balemans W, Van Hul E, Dikkers FG, Obee H, Stokroos RJ, Hildering P, Vanhoenacker F, Van Camp G, Willems PJ. 1998. Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. Am J Hum Genet 62:391-399.
29. Whyte MP. 1997. Searching for gene defects that cause high bone mass. Am J Hum Genet 60:1309-1311.
30. Wilcox WR, Lucas BC, Loebel B, Bachman RP, Lachman RS, Rimoin DL. 1998. Pacman dysplasia: report of two affected sibs. Am J Med Genet 77:272-276.
31. Young ID, Zuccollo JM, Broderick NJ. 1993. A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blömstrand chondrodysplasia? J Med Genet 30:155-157.