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Prenatal three-dimensional ultrasound diagnosis of a camptomelic dysplasia

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Abstract.

We describe a case of camptomelic dysplasia identified prenatally with the assistance of three-dimensional ultrasonography. The typical skeletal dysplasia of camptomelic dysplasia – including anterior bowing of the tibia, with skin dimpling over a convex surface at the point of maximal deformity, and talipes equinovarus – was successfully identified using the techniques of surface-rendering, multiplanar displays and rotated volume data. Three-dimensional ultrasonography allows the diagnosis of camptomelic dysplasia , which has a poor prognosis as it is accompanied by respiratory insufficiency and spinal deformities, to be made without delay and provides information supplementary to that provided by two-dimensional ultrasound for early diagnosis of skeletal dysplasia.

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References

  1. Cremin BJ, Orsmond G, Beighton P (1973) Autosomal recessive inheritance in camptomelic dwarfism. Lancet 1:488–489

    Article  CAS  PubMed  Google Scholar 

  2. Winter R, Rosenkranz W, Hofmann H, Zierler H, Becker ZH, Borkenstein M (1985) Prenatal diagnosis of camptomelic dysplasia by ultrasonography. Prenat Diagn 5:1–8

    Article  CAS  PubMed  Google Scholar 

  3. Bound JP, Finlay HVL, Roge FC (1952) Congenital anterior angulation of tibia. Arch Dis Child 27:179–184

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Spranger J, Langer LO, Maroteaux P (1970) Increasing frequency of a syndrome of multiple osseous defects? Lancet 2:716

    Article  CAS  PubMed  Google Scholar 

  5. Bianchine JW, Risemberg HM, Kanderian SS, Harrison HE (1971) Camptomelic dwarfism. Lancet 1:1017–1018

    Article  CAS  PubMed  Google Scholar 

  6. Wagner T, Wirth J, Meyer J et al. (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79:1111–1120

    Article  CAS  PubMed  Google Scholar 

  7. Connor JM, Connor RA, Sweet EM et al. (1985) Lethal neonatal chondrodysplasias in the west of Scotland 1970–1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant. Am J Med Genet 22:243–253

    Article  CAS  PubMed  Google Scholar 

  8. Camera G, Mastroiacoro P (1982) Birth prevalence of skeletal dysplasias in the Italian multicentric monitoring system for birth defects. In: Bartsocas CS, Papadatos CJ (eds): Skeletal dysplasias. Alan R. Liss, New York, pp 442–449

  9. Coscia MF, Bassett GS, Bowen JR, Ogilvie JW, Winter RB, Simonton SC (1989) Spinal abnormalities in camptomelic dysplasia. J Pediatr Orthop 9: 6–14

    Article  CAS  PubMed  Google Scholar 

  10. Sharony R, Browne C, Lachman RS, Rimoin DL (1993) Prenatal diagnosis of the skeletal dysplasias. Am J Obstet Gynecol 169:668–675

    Article  CAS  PubMed  Google Scholar 

  11. Gaffney G, Manning N, Boyd PA, Rai V, Gould S, Chamberlain P (1998) Prenatal sonographic diagnosis of skeletal dysplasias – a report of the diagnostic and prognostic accuracy in 35 cases. Prenat Diagn 18:357–632

    Article  CAS  PubMed  Google Scholar 

  12. Garjiam KV, Pretorius DH, Budorick NE, Cantrell CJ, Johnson DD, Nelson TR (2000) Fetal skeletal dysplasia: three-dimensional US – initial experience. Radiology 214:717–723

    Article  Google Scholar 

  13. Hata T, Aoki S, Akiyama M, Yanagihara, Miyazaki K (1998) Three-dimensional ultrasonographic assessment of fetal hands and feet. Ultrasound Obstet Gynecol 12:235–239

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Shin Kong Wu Ho-Su Memorial Hospital, No. 95, Wen Chang Road, Shih Lin District, Taipei, Taiwan

    K.-M. Seow, L.-W. Huang, Y.-H. Lin, H.-S. Pan, Y.-L. Tsai & J.-L. Hwang

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  1. K.-M. Seow
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  2. L.-W. Huang
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  3. Y.-H. Lin
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  4. H.-S. Pan
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  5. Y.-L. Tsai
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  6. J.-L. Hwang
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Correspondence to L.-W. Huang.

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Seow, KM., Huang, LW., Lin, YH. et al. Prenatal three-dimensional ultrasound diagnosis of a camptomelic dysplasia. Arch Gynecol Obstet 269, 142–144 (2004). https://doi.org/10.1007/s00404-002-0401-9

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  • DOI: https://doi.org/10.1007/s00404-002-0401-9

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