Spondylometaphyseal dysplasia with cone-rod dystrophy

American Journal of Medical Genetics

Volumn 129 A, Issue 3, 2004, Pages 265-276

  Walters, Brent A ^a   Raff, Michael L ^b   Ver Hoeve, James ^a   Tesser, Rachel ^a   Langer, Leonard O ^c   France, Thomas D ^a   Glass, Ian A ^b   Pauli, Richard M ^a,d  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c NONE   (United States)

^d UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

Bone dysplasia; Natural history; Osteochondrodystrophy; Skeletal dysplasia; Syndrome delineation; Vision impairment

Indexed keywords

AGE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISABILITY; DISEASE ASSOCIATION; DYSTROPHY; FEMALE; HUMAN; MALE; PRIORITY JOURNAL; RETINA CONE ROD DYSTROPHY; SPONDYLOMETAPHYSEAL DYSPLASIA;

BONES OF UPPER EXTREMITY; CHILD; CHILD, PRESCHOOL; ELECTRORETINOGRAPHY; FEMALE; HAND; HUMANS; INFANT; LEG BONES; MALE; OSTEOCHONDRODYSPLASIAS; PELVIS; RETINAL DEGENERATION; SPINE;

EID: 4444298290     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30145     Document Type: Article

References (16)

1. Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G. 1997. Axial spondylometaphyseal dysplasia. Eur J Pediatr 156:627-630.
2. Elçioglu N, Hall CM. 1998. Spondylometaphyseal dysplasia-Sedaghatian type. Am J Med Genet 76:410-414.
3. Greenhaw GA, Hecht JT, Greenberg F, Walters J, Langer LO, Berry S, Pauli R, Horton WA. 1990. A unique type of spondylometaphyseal dysplasia in three children. Am J Hum Genet 47(S3):A59.
4. Guirgis MF, Thornton SS, Tychen L, Lueder GR. 2002. Cone-rod dystrophy and Duane retraction syndrome in a patient with achondroplasia. J AAPOS 6:400-401.
5. Gustavson KH, Holmgren G, Probst F. 1978. Spondylometaphyseal dysplasia in two sibs of normal parents. Pediatr Radiol 7:90-96.
6. Kozlowski K. 1973. Spondylo-metaphyseal dysplasia. In: Kaufman HJ, editor. Progress in pediatric radiology. Vol. 4. Basel: Karger. pp 299-308.
7. Kozlowski K, Bacha L, Massen R, Ayati M, Sator S, Brahimi L. 1988. A new type of spondylo-metaphyseal dysplasia-Algerian type. Report of five cases. Pediatr Radiol 18:221-226.
8. Kretschmann U, Bock M, Gockeln R, Zrenner E. 2000. Clinical applications of multifocal electroretinography. Doc Ophthalmol 100:99-113.
9. Langer LO, Brill PW, Ozonoff MB, Pauli RM, Wilson WG, Alford BA, Pavlov H, Drake DG. 1990. Spondylometaphyseal dysplasia, corner fracture type: A heritable condition associated with coxa vara. Radiology 175:761-766.
10. Lerman-Sagie T, Grunebaum M, Mimouni M. 1987. Case report 416: Spondylometaphyseal dysplasia with an unclassified mucopolysaccharide in the urine ("generalized enchondromatosis with mucopolysacchariduria"). Skel Radiol 16:175-178.
11. Marmor MF, Zrenner E. 1999. Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision. Doc Ophthalmol 97:143-156.
12. Riggs W, Summitt RL. 1971. Spondylometaphyseal dysplasia (Kozlowski). Report of affected mother and son. Pediatr Radiol 101:375-381.
13. Sedaghatian MR. 1980. Congenital lethal metaphyseal chondrodysplasia: A newly recognized complex autosomal recessive disorder. Am J Med Genet 6:269-274.
14. Seeliger M, Kretschmann U, Apfelstedt-Sylla E, Ruther K, Zrenner E. 1998. Multifocal electroretinography in retinitis pigmentosa. Am J Ophthalmol 125:214-226.
15. Sutcliffe J. 1965. Metaphyseal dysostosis. Ann Radiol 9:215-233.
16. Sutter EE, Tran D. 1992. The field topography of ERG components in man. I: The photopic luminance response. Vision Res 32:433-446.