Abstract
Congenital osteogenesis imperfecta (OI) was diagnosed by ultrasound in a 31-week-old fetus, and the diagnosis confirmed after delivery by caesarean section at week 36. The baby survived the neonatal period, but failed to thrive, had recurrent respiratory infections and ultimately died at 8 months. Cultured fibroblasts synthesized both normal type I collagen and unstable type I collagen harbouring a structural defect in the α1(I) cyanogen bromide-derived peptide number 8 (CB8) region of the molecule, indicating a heterozygous dominant mutation. A+ birth, the radiological picture was that of the “thin bone”-type of congenital OI (OI type IIB/III in the Sillence classification); at the age of 12 weeks ribs and long bones had undergone a marked expansion giving a very different picture, that of the “thick bone”-type congenital OI (OI type IIA). The mechanism responsible for this change in bone structure is not known, but fractures and callus formation are unlikely to be the only factors. Caution is needed in the interpretation of radiographs of newborns with OI for prognostic or genetic purposes.
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Abbreviations
- COL1A1:
-
cene coding for proα1-chains of type I collagen
- COL1A2:
-
gene coding for proα2-chains of type 1 collagen
- OI:
-
osteogenesis imperfecta
- Tm :
-
melting temperature
References
Aitchison K, Ogilvie D, Honeyman M, Thompson E, Sykes B (1988) Homozygous osteogenesis imperfecta unlinked to collagen I genes. Hum Genet 78:233–236
Brons JTJ, Harten H van der, Wladimiroff JW, Geijn HP van, Dijkstra PF, Exalto N, Reuss A, Niermeijer MF, Meijer CJLM, Arts NFT (1988) Prenatal ultrasonographic diagnosis of osteogenesis imperfecta. Am J Obstet Gynecol 159:176–181
Byers PH (1989) Disorders of collagen biosynthesis and structure. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 2805–2842
Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC (1988) Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 42:237–248
Knisely AS, Magid MS, Felix JC, Singer DB (1988) Parathyroid gland hemorrhage in perinatally lethal osteogenesis imperfecta. J Pediatr 112:720–725
Sillence DO, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101–116
Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL (1984) Osteogenesis imperfecta type II-delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 17:407–423
Sillence DO, Barlow KK, Cole WG, Dietrich S, Garber AP, Rimoin DL (1986) Osteogenesis imperfecta type III—delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 23:821–832
Spranger J (1984) Osteogenesis imperfecta: a pasture for splitters and lumpers. Am J Med Genet 17:425–428
Spranger J, Cremin B, Beighton P (1982) Osteogenesis imperfecta congenita — features and prognosis of a heterogeneous condition. Pediatr Radiol 12:21–27
Steinmann B, Rao VH, Vogel A, Bruckner P, Gitzelmann R, Byers PH (1984) Cysteine in the triple-helical domain of one allelic product of the α1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem 259:11129–11138
Steinmann B, Superti-Furga A, Royce PM (1988) Imperfect collagenesis in osteogenesis imperfecta. Ann N Y Acad Sci 543:47–61
Superti-Furga A, Pistone F, Romano C, Steinmann B (1989) Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule. J Med Genet 26:358–362
Thompson EM, Young ID, Hall CM, Pembrey ME (1987) Recurrence risk and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet 24:390–405
Williams EM, Nicholls AC, Daw SC, Mitchell N, Levin LS, Green B, MacKenzie J, Evans DR, Chudleigh PA, Pope FM (1989) Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta. Clin Genet 35:181–190
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Pendola, F., Borrone, C., Filocamo, M. et al. Radiological “metamorphosis” in a patient with severe congenital osteogenesis imperfecta. Eur J Pediatr 149, 403–405 (1990). https://doi.org/10.1007/BF02009659
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DOI: https://doi.org/10.1007/BF02009659