Management of rare and complex disability: Achondroplasia and hypochondroplasia

Current Paediatrics

Volumn 6, Issue 3, 1996, Pages 178-182

  Witherow, P J ^a   Gargan, M F ^a  

^a BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 22844445700     PISSN: 09575839     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0957-5839(96)80024-8     Document Type: Conference Paper

References (14)

1. Ponseti I. I. V. Skeletal growth in achondroplasia. J Bone Joint Surg 1970; 52-A: 701-716.
2. Wynne-Davies R, Gormley J. The prevalence of skeletal dysplasias. J Bone Joint Surg 1985; 67-B: 133-137.
3. Rousseau F, Bonaventure J, Legeal-Mallet L et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994; 371: 252-254.
4. Wynne-Davies R, Hall C M, Apley A G. Atlas of Skeletal Dysplasias. Edinburgh: Churchill Livingstone, 1985: 181-212.
5. Pauli R M, Horton V K, Glinski L P, Reiser C A. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Human Genet 1995; 56: 732-744.
6. Rimoin D L. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression [editorial]. Am J Human Genet 1995; 56: 824-827.
7. Kopits S E. Orthopedic complications of dwarfism. Clin Orthop Rel Res 1976; 114: 153-179.
8. Lonstein J E. Treatment of kyphosis and lumber stenosis in achondroplasia. In: Nicoletti B, Kopits S E, Ascani E, McKusick V A, eds. Human Achondroplasia. New York: Plenum Press, 1988: 283-292.
9. Wynne-Davies R, Walsh W K, Gormley J. Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. J Bone Joint Surg 1981; 63-B: 508-515.
10. Aldeghiri R, Trivella G, Renzi-Brivio L, Tessari G, Agostini S, Lavini F. Lengthening of the lower limbs in achondroplastic patients. A comparative study of four techniques. J Bone Joint Surg 1988; 70-B: 69-73.
11. De Bastiani G, Aldegheri R, Renzi-Brivio L, Trivella G. Limb lengthening by callus distraction (callotasis). J Pediatr Orthop 1987; 7: 129-134.
12. Peretti G, Memeo A, Paronzini A, Marjorati S. Staged lengthening in the prevention of dwarfism in achondroplastic children: a preliminary report. J Pediatr Orthop Part B 1995; 4: 58-64.
13. Beals RK. Hypochondroplasia. A report of five kindreds. J Bone Joint Surg 1969; 51-A: 728-736.
14. Mullis P E, Patel M S, Brickell P M, Hindmarsh P C, Brook C G. Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia. Clin Endocrinol 1991; 34(4): 265-274.