Abstract
Punctate epiphyses are caused by a diverse group of conditions. They may be an inherited part of certain bone dysplasias or an incidental finding occurring occasionally in various disorders. The pattern of the puncta together with other radiologic findings aid in making the correct diagnosis.
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Theander G, Pettersson H (1978) Calcification in chondrodysplasia punctata: relation to ossification and skeletal growth. Acta Radiol Diag 19: 205
Howe AM, Webster WS (1992) The warfarin embryopathy: a rat model showing maxillonasal hypoplasia and other skeletal disturbances. Teratology 46: 379
Kaufmann HJ, Mahboubi S, Spackman TJ (1967) Tracheal stenosis as a complication of chondrodysplasia punctata. Ann Radiol 19: 203
Spranger JW, Opitz JM, Bidder U (1971) Heterogeneity of chondrodysplasia punctata. Humangenetik 11: 190
Happle R (1979) X-linked dominant chondrodysplasia punctata. Hum Genet 53: 65
Manzke H, Christophers E, Wiedemann HR (1980) Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata. Clin Genet 17: 97
Gilbert EF, Opitz JM, Spranger JW et al (1976) Chondrodysplasia punctata—rhizomelic form: pathologic and radiologic studies of three infants. Eur J Pediatr 123: 89
Wardinsky TD, Pagon RA, Powell BR et al (1990) Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. Clin Genet 38: 84
Naidu S, Moser HW (1990) Peroxisomal disorders. Neurol Clin 8: 507
Wilson GN, Holmes RD, Hajra AK (1988) Peroxisomal disorders: clinical commentary and future prospects. Am J Med Genet 30: 771
Schutgens RBH, Heymans HSA, Wanders RJA et al (1986) Peroxisomal disorders: a newly recognised group of genetic diseases. Eur J Pediatr 144: 430
Rittler M, Menger H, Spranger J (1990) Chondrodysplasia punctata, tibia-metacarpal (MT) type. Am J Med Genet 37: 200
Borochowitz Z (1991) Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity? Am J Med Genet 41: 417
Burck U (1982) Mesomelic dysplasia with punctate epiphyseal calcifications — a new entity of chondrodysplasia punctata. Eur J Pediatr 138: 67
Sheffield LJ, Danks DM, Mayne V et al (1976) Chondrodysplasia punctata — 23 cases of a mild and relatively common variety. J Pediatr 89: 916
Maroteaux P (1989) Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form. Hum Genet 82: 167
Curry CJR, Magenis RE, Brown M et al (1984) Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 311: 1010
Ballabio A, Zollo M, Carrozzo R et al (1991) Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. Am J Med Genet 41: 184
Bick D, Curry CJR, McGill JR et al (1989) Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. Am J Med Genet 33: 100
Ogata T, Goodfellow P, Petit C et al (1993) Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus. Am J Med Genet 45: 101
Wulfsberg EA, Curtis J, Jayne CH (1992) Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders. Am J Med Genet 43: 823
Lawrence JJ, Schlesinger AE, Kozlowski K, et al (1989) Unusual radiographic manifestations of chondrodysplasia punctata. Skeletal Radiol 18: 15
Shohat M, Rimoin DL, Gruber HE, et al (1993) New epiphyseal stippling syndrome with osteoclastic hyperplasia. Am J Med Genet 45: 558
Poznanski AK, Nosanchuk JS, Baublis J, et al (1970) The cerebro-hepato-renal syndrome (CHR) (Zellweger's syndrome). AJR 109: 313
Weese-Mayer DE, Smith KM, Salafksy I et al (1987) Computerized tomography and ultrasound in the diagnosis of cerebrohepato-renal syndrome of Zellweger. Pediatr Radiol 17: 170
Partoletti S, Armfield S III, Ledesma-Medina J (1978) The cerebro-hepato-renal (Zellweger's) syndrome: report of four cases. Radiology 127: 741
Becker MH, Genieser NB, Finegold M (1975) Chondrodysplasia punctata. Is maternal warfarin therapy a factor? Am J Dis Child 129: 356
Hall JG, Pauli RM, Wilson KM (1980) Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med 68: 122
Barr M Jr, Burdi AR (1976) Warfarin-associated embryopathy in a 17-week-old abortus. Teratology 14: 129
Pauli RM, Lian JB, Mosher DF et al (1987) Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the Warfarin embryopathy: clues to the mechanism of teratogenicity of coumarin derivatives. Am J Hum Genet 41: 566
Pryde PG, Bawle E, Brandt F et al (1993) Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-Hünermann syndrome). Am J Med Genet 47: 426
Badois C, Lavollay B, Bomsel F (1983) Punctate epiphyses disease associated with alcoholic foetopathy. First three reported cases. Ann Radiol 26: 244
Le Marec B, Saget F, Duclault A-M et al (1976) Chondrodysplasia punctata and chromosomal abnormalities. Ann Radiol 19: 599
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Poznanski, A.K. Punctate epiphyses: A radiological sign not a disease. Pediatr Radiol 24, 418–424 (1994). https://doi.org/10.1007/BF02011908
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DOI: https://doi.org/10.1007/BF02011908