REFERENCES
- Riggs W, Summitt RL. Spondylometaphyseal dysplasia (Kozlowski). Report of affected mother and son. Pediatr Radiol. 1971;101:375–381.
- Kozlowski K. Spondylo-metaphyseal dysplasia. In:Kaufman HJ, editor. Progress in pediatric radiology. Vol. 4. Basel: Karger. 1973;299–308.
- Sutcliffe J. Metaphyseal dysostosis. Ann Radiol. 1965;9:215–233.
- Langer LO, Brill PW, Ozonoff MD, et al. Spondylometaphyseal dysplasia, corner fracture type: A heritable condition associated with coxa vara. Radiology. 1990;175:761–766.
- Sedaghatian MR. Congenital lethal metaphyseal chondrodysplasia: A newly recognized complex autosomal recessive disorder. Am J Med Genet. 1980;6:269–274.
- Elcioglu N, Hall CM. Spondylometapnyseal dysplasia-Sedaghatian type. Am J Med Genet. 1998;76:410–414.
- Walters BA, Raff ML, Ver Hoeve J. Spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet. 2004;129A:265–276.
- Kleinman PK, Belanger PL, Karelias A, et al. Normal metaphyseal radiologic variants not to be confused with findings of infant abuse. AJR. 1991;156:781–783.
- Oestreich AE, Ahmad BS. The periphysis and its effect on the metaphysis. Skeletal Radiol. 1993;22:115–119.
- Savarirayan R, Cormier-Daire V, Lachman RS. Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the “Japanese” type. Pediatr Radiol. 2000;30:460–463.
- Walter K, Tansek M, Tobias ES. COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. Am J Med Genet. 2007; 15:143(2):161–167.
- Parma ES, Körkkö J, Hagler WS, et al. Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol. 2002;134(5):728–734.
- Mansour AM. Central areolar choroidal dystrophy in a family with pseudoachondroplastic spondyloepiphyseal dysplasia. Ophthalmic Pediatrics and Genetics. 1988;9(1):57–65.
- Briggs MD, Chapman KL, Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mut. 2002;19:465–478.
- Sousa SB, Russell-Eggitt I, Hall C, et al. Clincal report: further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet (Part A). 2008;146:3186–3194.
- Badano JL, Mitsuma N, Beales PL, et al. The ciliopathies: An emerging class of human genetic disorders. Annu Rev Genom Hum Genet. 2006;7:125–148.
- Adams NA, Awadein A, Toma HS. The retinal ciliopathies. Ophthalmic Genet. 2007;28:113–125.
- Spranger JW, Wiedemann HR. The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik. 1970;9:113–139.