References

Beighton P, Spranger J, Versveld G. Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients. S Afr Med J 1983; 64: 565-8 Cisarik F, Kozlowski K, Masel J, Sillence D. Variability in kyphomelic dysplasia. Pediatr Radiol 1999; 29: 551-7 Eggli K, Giudici M, Ramer J, Easterbrook J, Madewell J. Mel-nick-Needles syndrome. Four new cases. Pediatr Radiol 1992;22:257-61 Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM,Whyte MP. Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine 1984; 63: 12-24 Fasanelli S, Kozlowski K, Reiter S, Sillence D. Dyssegmental dysplasia: report of two cases and review of the literature. Skeletal Radiol 1985; 14: 173-7 Filisetti D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier JM, Rowe P, Francis F, Julienne A, Hanauer A, Econs MJ, Oudet C. Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. Eur J Hum Genet 1999; 7:615-9 Francis GL, Jelinek JJ, McHale K, Adamson M, Levin SW. The Weismann-Netter syndrome: a cause of bowed legs in childhood. Pediatrics 1991; 88:334-7 Hall BD, Spranger J. Familial congenital bowing with short bones. Radiology 1979; 132: 611-4 Hall BD, Spranger JW. Campomelic dysplasia. Further elucidation of a distinct entity.Am J Dis Child 1980; 134: 285-9 Hardy DC, Murphy WA, Siegel BA, Reid IR,Whyte MP.X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. Radiology 1989; 171: 403-14

Hoeffel JC, Mainard L, Chastagner P, Hoeffel CC. Mandibulo-

acral dysplasia. Skeletal Radiol 2000; 29: 668-71 Kozlowski K, Sillence D, Cortis-Jones R, Osborn R. Boomerang dysplasia. Br J Radiol 1985; 58: 369-71 Lachman RS, Rimoin DL, Spranger J. Metaphyseal chon-drodysplasia, Schmid type: clinical and radiographic delineation with a review of the literature. Pediatr Radiol 1988; 18: 93-102

Langer LO Jr, Petersen D, Spranger JW. An unusual bone dys-plasia: parastremmatic dwarfism. AJR Am J Roentgenol 1970; 110:550-60 Langer LO Jr, Gonzalez-Ramos M, Chen H, Espiritu CE, Courtney NW, Opitz JM. A severe infantile micromelic chon-drodysplasia which resembles Kniest disease. Eur J Pediatr 1976; 123:29-38

Lee HJ, Cho DY, Tsai FJ, Shen WC. Antley-Bixler syndrome, description of two new cases and review of the literature. Pediatr Neurosurg 2001; 34:33-9 Mankin HJ. Rickets, osteomalacia, and renal osteodystrophy.

Part II. J Bone Joint Surg Am 1974; 56: 352-86 Maroteaux P, Freisinger P, Le Merrer M. Pachydysostosis of the fibula. J Bone Joint Surg Br 1991; 73: 842-5 Mastroiacovo P, Dallapiccola B,Andria G, Camera G, Lungarot-ti MS. Difetti congeniti e sindromi malformative. McGraw-Hill, Milan, 1990 Meema HE, Meema S. Improved roentgenologic diagnosis of osteomalacia by microradioscopy of hand bones. Am J Roentgenol Radium Ther Nucl Med 1975; 125: 925-35 Memis A, Ustun EE, Sener RN. Case report 717. Osteodysplas-ty (Melnick-Needles syndrome). Skeletal Radiol 1992; 21: 132-4

Mortier GR, Rimoin DL, Lachman RS. The scapula as a window to the diagnosis of skeletal dysplasias. Pediatr Radiol 1997; 27: 447-51 Nishimura G, Horiuchi T, Kim OH, Sasamoto Y. Atypical skeletal changes in otopalatodigital syndrome type II: pheno-typic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. Am J Med Genet 1997; 73: 132-8 Nogami H, Oohira A, Kuroyanagi M, Mizutani A. Congenital bowing of long bones: clinical and experimental study. Teratology 1986; 33: 1-7 Pallotta R, Ehresmann T, Roggini M, Fusilli P. Kyphomelic dys-plasia: clinical and radiologic long-term follow-up of one case and review of the literature. Radiology 1999; 212: 847-52

Pauli RM, Modaff P, Sipes SL, Whyte MP. Mild hypophosphata-sia mimicking severe osteogenesis imperfecta in utero: bent but not broken.Am J Med Genet 1999; 86:434-8 Pazzaglia UE, Beluffi G. Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories. Pediatr Radiol 1987; 17: 50-5 Pitt MJ. Rachitic and osteomalacic syndromes. Radiol Clin

North Am 1981;19:581-99 Pitt MJ. Rickets and osteomalacia are still around. Radiol Clin

North Am 1991;29:97-118 Pitt MJ. Rickets and osteomalacia. In: Resnick D (ed.) Diagnosis of joint and bone disorders. W.B. Saunders Company, Philadelphia, 1995 (3rd ed.), pp. 1885-922 Renton P. Radiology of rickets, osteomalacia and hyper-

parathyroidism. Hosp Med 1998; 59: 399-403 Rumball KM, Pang E, Letts RM. Musculoskeletal manifestations of the Antley-Bixler syndrome. J Pediatr Orthop B 1999; 8: 139-43

Sabean HB. The role of radiology in the investigation of skeletal "demineralization". N S Med Bull 1966; 45: 307-9 Shohat M, Rimoin DL, Gruber HE, Lachman RS. Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol 1991; 21:421-7 Tieder M, Manor H, Peshin J, Alon US. The Weismann-NetterStuhl syndrome: a rare pediatric skeletal dysplasia. Pediatr Radiol 1995; 25: 37-40 Winship I, Cremin B, Beighton P. Boomerang dysplasia. Am J Med Genet 1990; 36: 440-3

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