Abstract
Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearence. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvment of the spine.
References
Cockayne EA (1936) Dwarfism with retinal atrophy and deafness. Arch Dis Child 11:1
Houston SC, Zaleski WA, Rozdilsky (1982) Identical male twins and brother with Cockayne syndrome. Am J Med Genet 13:211
Alton DJ, McDonald P, Reilly BJ (1972) Cockayne syndrome. A report of three cases. Radiology 102:403
Brumback RA, Yoder FW, Andrews AD, Peck GL, Robbins JH (1978) Normal pressure hydrocephalus: recognition and relationship to neurological abnormalities in Cockayne syndrome. Arch Neurol 35:337
Levinson ED, Zimmerman AW, Grunnet ML, Lewis RA, Soackman TJ (1982) Cockayne syndrome. J Comput Assist Tomogr 6:1172
Riggs W, Seibert J (1972) Cockayne syndrome: roentgen findings. Am J Roentgenol 116:623
Smits MG, Gabreesl-Festen FJM, Renier WO, Josten EMG, Gabreels-Festen AAWM, ter Laak HJ, Pinckers AJL, Hombergen GCJ, Notermans SLH, Thijssen HOM (1982) Peripheral and central myelinopathy in Cockayne syndrome. Report of 3 siblings. Neuropediatrics 13:161
Pastorin L, Rota A, Vista N, Benso L (1984) La diagnosi auxologica. II bambino di bassa statura ed. Cortina, Turin, p 27
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Cirillo Silengo, M., Franceschini, P., Bianco, R. et al. Distinctive skeletal dysplasia in Cockayne syndrome. Pediatr Radiol 16, 264–266 (1986). https://doi.org/10.1007/BF02456305
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DOI: https://doi.org/10.1007/BF02456305