Abstract
Chondrodysplasia punctata (CDP) refers to the radiographic appearance of punctate calcifications, due to abnormal cartilaginous stippling, the result of calcium deposition in the areas of enchondral bone formation, described in a variety of chondrodysplasias.
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Argo, K. M., Toriello, H. V., Jelsema, R. D., et al. (1996). Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type. Ultrasound in Obstetrics & Gynecology, 8, 350–354.
Astley, R., & Kendall, A. (1980). A bone dysplasia for diagnosis. Annales de Radiologie, 23, 121.
Aughton, D. J., Kelley, R. I., Metzenberg, A., et al. (2003). X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. American Journal of Medical Genetics, 116A, 255–260.
Barøy, T., Koster, J., Strømme, P., et al. (2015). A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Human Molecular Genetics, 24, 5845–5854.
Barr, D. G., Kirk, J. M., Al Howasi, M., et al. (1993). Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. Archives of Disease in Childhood, 68, 415–417.
Becker, K., Csikós, M., Horváth, A., et al. (2001). Identification of a novel mutation in 3β-hydroxysteroid-Δ8-Δ7-isomerase in a case of Conradi-Hünermann-Happle syndrome. Experimental Dermatology, 10, 286–289.
Borochowitz, Z. (1991). Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: Humero-metacarpal (HM) type: Variation or heterogeneity? American Journal of Medical Genetics, 41, 417–422.
Braverman, N., Steel, G., Obie, C., et al. (1997). Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genetics, 15, 369–376.
Braverman, N., Lin, P., Moebius, F. F., et al. (1999). Mutations in the gene encoding 3β-hydroxysteroid-Δ8- Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Nature Genetics, 22, 291–294.
Braverman, N., Chen, L., Lin, P., et al. (2002). Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Human Mutation, 20, 284–297.
Braverman, N. E., Moser, A. B., & Steinberg, S. J. (2010). Rhizomelic chondrodysplasia punctata type I. GeneReviews. Updated March 2, 2010. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1270/
Braverman, N. E., Bober, M., Brunetti-Pierri, N., et al. (2014). Chondrodysplasia punctata 1, X-linked. GeneReviews. Initial posting Nov 20, 2014. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1544/
Brites, P., Motley, A., Hogenhout, E., et al. (1998). Molecular basis of rhizomelic chondrodysplasia punctata type I: High frequency of the Leu-292 stop mutation in 38 patients. Journal of Inherited Metabolic Disease, 21, 306–308.
Brookhyser, K. M., Lipson, M. H., Moser, A. B., et al. (1999). Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. Prenatal Diagnosis, 19, 383–385.
Brunetti-Pierri, N., Andreucci, M. V., Tuzzi, R., et al. (2003). X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability. American Journal of Medical Genetics, 117A, 164–168.
Buchert, R., Tawamie, H., Smith, C., et al. (2014). A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. American Journal of Human Genetics, 95, 602–610.
Carty, H. (1989). Dappled diaphyseal dysplasias. Röfo, 150, 228–229.
Collins, P., Olufs, R., Karvitz, H., et al. (1977). Relationship of maternal warfarin therapy in pregnancy to chondrodysplasia punctata: Report of a case. American Journal of Obstetrics and Gynecology, 127, 444–446.
DiPreta, E. A., Smith, K. J., & Skelton, H. (2000). Cholesterol metabolism defect associated with Conradi-Hunerman-Happle syndrome. International Journal of Dermatology, 39, 846–858.
Grange, D. K., Kratz, L. E., Braverman, N. E., et al. (2000). CHILD Syndrome caused by deficiency of 3β-Hydroxysteroid-Δ8- Δ7-isomerase. American Journal of Medical Genetics, 90, 328–335.
Happle, R. (1979). X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Human Genetics, 53, 65–73.
Happle, R. (1981). Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata. Clinical Genetics, 19, 64–66.
Has, C., Bruckner-Tuderman, L., Müller, D., et al. (2000). The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: Novel mutations, and somatic and gonadal mosaicism. Human Molecular Genetics, 9, 1951–1955.
Hellenbroich, Y., Grzeschik, K.-H., Krapp, M., et al. (2007). Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata. European Journal of Medical Genetics, 50, 392–398.
Herman, G. E., Kelley, R. I., Pureza, V., et al. (2002). Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). Genetics in Medicine, 4, 434–438.
Ikegawa, S., Ohashi, H., Ogata, T., et al. (2000). Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. American Journal of Medical Genetics, 94, 300–305.
Irving, M. D., Chitty, L. S., Mansour, S., et al. (2008). Chondrodysplasia punctata: A clinical diagnostic and radiological review. Clinical Dysmorphology, 17, 229–241.
Jurkiewicz, E., Marcinska, B., Bothur-Nowacka, J., et al. (2013). Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature. Polish Journal of Radiology, 78, 57–64.
Kelley, R. I., Wilcox, W. G., Smith, M., et al. (1999). Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. American Journal of Medical Genetics, 83, 213–219.
Keutel, J., Jorgensen, G., & Gabriel, P. (1972). A new autosomal recessive syndrome: Peripheral pulmonary stenoses, brachytelephalangism, neural hearing loss and abnormal cartilage calcifications-ossification. Birth Defects-Original Article Series, VIII, 60–68.
Lefebvre, M., Dufernez, F., Bruel, A.-L., et al. (2015). Severe X-linked chondrodysplasia punctata in nine new fetuses. Prenatal Diagnosis, 35, 1–10.
Miller, S. F., Proud, V. K., Werner, A. L., et al. (2003). Pacman dysplasia: A lethal skeletal dysplasia with variable radiographic features. Pediatric Radiology, 33, 256–260.
Monroe, P. B., Olgunturk, R. O., Fryns, J.-P., et al. (1999). Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nature Genetics, 21, 142–144.
Motley, A. M., Brites, P., Gerez, L., et al. (2002). Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. American Journal of Human Genetics, 70, 612–624.
Mundinger, G., Weiss, C., & Fishman, E. (2009). Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata. Pediatric Radiology, 39, 625–628.
Ochiai, D., Takamura, K., Nishimura, G., et al. (2013). Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review. Congenital Anomalies, 53, 160–162.
Parenti, G., Buttitta, P., Meroni, G., et al. (1997). X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. American Journal of Medical Genetics, 73, 139–143.
Pauli, R. M., Lian, J. B., Mosher, D. F., et al. (1987). Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of warfarin embryopathy: Clues to the mechanism of teratogenicity of Coumadin derivatives. American Journal of Human Genetics, 41, 566–583.
Pradhan, G. M., Chaubal, N. G., Chaubal, J. N., et al. (2002). Second-trimester sonographic diagnosis of nonrhizomelic chondrodysplasia punctata. Journal of Ultrasound in Medicine, 21, 345–349.
Rittler, M., Menger, H., & Spranger, J. (1990). Chondrodysplasia punctata, tibiametacarpal (MT) type. American Journal of Medical Genetics, 37, 200–208.
Shirahama, S., Miyahara, A., Kitoh, H., et al. (2003). Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. Human Genetics, 112, 78–83.
Shukla, A., & Phadke, S. R. (2015). Chondrodysplasia punctata tibia metacarpal type: Report of a 1.5 year old child with severe short stature and extensive calcific stippling. Clinical Dysmorphology, 24, 118–121.
Spranger, J. W., Brill, P. W., & Poznanski, A. (2002). Bone dysplasias. An atlas of genetic disorders of skeletal development (2nd ed., pp. 57–79). Oxford: Oxford University Press.
Wanders, R. J., & Poll-The, B. T. (2015). Role of peroxisomes in human lipid metabolism and its importance for neurological development. Neuroscience Letters. http://dx.doi.org/10.1016/j.neulet.2015.06.018.
White, A. L., Modaff, P., Holland-Morris, F., et al. (2003). Natural history of rhizomelic chondrodysplasia punctata. American Journal of Medical Genetics, 118A, 332–342.
Whittock, N. V., Izatt, L., Simpson-Dent, S. L., et al. (2003). Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata. Prenatal Diagnosis, 23, 701–704.
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Chen, H. (2015). Chondrodysplasia Punctata. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_41-2
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DOI: https://doi.org/10.1007/978-1-4614-6430-3_41-2
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