Abstract
A 4-month-old female with homozygous achondroplasia and daytime apnea was found to have a small foramen magnum by computerized tomography. Following suboccipital craniectomy and C1-C2 laminectomy respiratory problems did not recur during a 7 month post-operative period. We suggest that the respiratory problems in homozygous achondroplasia may be due to brainstem compression from an abnormally small foramen magnum.
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Abbreviations
- FM:
-
foramen magnum
- CT:
-
computerized tomography
References
Alterman K, Welch JP, Taylor PG (1983) Presumed homozygous achondroplasia. Pathol Res Pract 178:27–39
Boddy K, Dawes GS (1975) Fetal breathing. Br Med Bull 31:3–7
Coin CG, Malkasian DR (1971) Foramen magnum. In: Newton TH, Potts DG (eds) Radiology of the Skull and Brain — The Skull, vol 1. Mosby, St Louis, pp 275–286
Fremion AS, Giarg PG, Kalsbeck J (1984) Apnea as the sole manifestation of cord compression in achondroplasia. J Pediatr 104:398–401
Hall JG, Dorst JP, Taybi H, Scott CI, Langer LO, McKusick VA (1969) Two probable cases of homozygosity for the achondroplasia gene. BDOAS V (4):24–34
Hecht JT, Nelson FW, Butler IJ, Horton WA, Scott CI, Wassman ER, Mehringer CR, Rimoin DL, Pauli RM (1985) Computerized tomography of the foramen magnum: achondroplastic values compared top normal standards. AJMG 20:355–360
Hecht JT, Nelson FW, Goldie WD, Horton WA, Butler IJ (1985) Respiratory complications in achondroplasia. AJHG 37:A58
Horton WA, Dockery D, Sillence D, Rimoin DL (1980) An embedding method for histochemical studies of undecalcified skeletal growth plate. Stain Technol 55:19–29
Horton WA (1983) Disproportionate short stature: In: Kelley V (ed) Practice of Pediatrics, vol 7. Harper and Row, New York, pp 1–15
Kozlowski K, Masel J, Morris L, Ryan J, Collins E, Van Vliet P, Woolnorgh H (1977) Neonatal death dwarfism (Report of 17 Cases). Australas Radiol 21:164–183
Kozlowski K, Masel J, Morris L, Kunze D (1978) Neonatal death dwarfism (A further report). Fortschr Röntgenstr 129:626–633
Pauli RM, Conray MM, Langer LO, McLone DG, Naidich T, Franciosi R, Ratner IM, Copps SC (1983) Homozygous achondroplasia with survival beyond infancy. AJMG 16:459–473
Pauli RM, Scott CI, Wassman ER, Gilbert EF, Leavitt L, ver Hoeve J, Hall JG, Partington MW, Jones KL, Sommer A, Feldman W, Langer LO, Rimoin DL, Hecht JT, Levovitz R (1984) Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr 104:342–348
Stokes DC, Phillips JA, Lconard CO, Dorst JP, Kopits SE, Trojack JE, Brown DL (1983) Respiratory complications of achondroplasia. J Pediatr 102:534–451
Yang SS Corbett DP, Brough AJ, Heidelberger KP, Bernstein J (1977) Upper cervical myelopathy in achondroplasia. Am J Clin Pathol 68:68–72
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Hecht, J.T., Horton, W.A., Butler, I.J. et al. Foramen magnum stenosis in homozygous achondroplasia. Eur J Pediatr 145, 545–547 (1986). https://doi.org/10.1007/BF02429060
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DOI: https://doi.org/10.1007/BF02429060