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

Was this article helpful?

0 0
Hearing Aids Inside Out

Hearing Aids Inside Out

Have you recently experienced hearing loss? Most probably you need hearing aids, but don't know much about them. To learn everything you need to know about hearing aids, read the eBook, Hearing Aids Inside Out. The book comprises 113 pages of excellent content utterly free of technical jargon, written in simple language, and in a flowing style that can easily be read and understood by all.

Get My Free Ebook

Post a comment