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Visceral manifestations of hypochondrogenesis

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Autopsy of a stillborn neonate with hypochondrogenesis revealed severe cardiac abnormalities and extensive diverticulosis of the proximal region of the small intestine. Visceral ramifications are unusual in hypochondrogenesis; they may reflect heterogeneity of the intramolecular defect in the COL2A1 gene that codes for the achondrogenesis type II–hypochondrogenesis spectrum of disorders.

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  1. 1.

    Andersen LP, Schjoldager B, Halver B (1988) Jejunal diverticulosis in a family. Scand J Gastroent 23:672–674

  2. 2.

    Borochowitz A, Ornoy A, Lachman R, Rimoin RL (1986) Achondrogenesis II–hypochondrogenesis: variability versus heterogeneity. Am J Med Genet 24:273–288

  3. 3.

    Castori M, Brancati F, Scanderbeg AC, Dallapiccola B (2006) Hypochondrogenesis. Pediatr Radiol 36(5):460–461

  4. 4.

    Clunie GJA, Mason JM (1962) Visceral diverticula and the Marfan syndrome. Brit J Surg 50:51–51

  5. 5.

    Kapur RP (2007) Achondrogenesis. Pediatr Dev Pathol 10:253–255

  6. 6.

    Korkko J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ (2000) Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet 92(2):95–100

  7. 7.

    Lachman RS, Tiller GE, Graham JM Jr, Rimoin DL (1992) Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update. Eur J Radiol 14:1–10

  8. 8.

    Maroteaux P, Stanescu V, Stanescu R (1983) Hypochondrogenesis. Eur J Pediatr 141:14–22

  9. 9.

    Potocki L, Abuelo DN, Oyer CE (1995) Cardiac malformation in two infants with hypochondrogenesis. Am J Med Genet 59:295–299

  10. 10.

    Rittler M, Orioli IM (1995) Achondrogenesis type II with polydactyly. Am J Med Genet 59:157–160

  11. 11.

    Superti-Furga A, Unger S (2007) Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet 143(1):1–18

  12. 12.

    Van der Harten HJ, Brons JTJ, Dijkstra F, Niermeyer MF, Meijer CJLM, Van Giejn HP, Arts NFTH (1988) Achondrogenesis–hypochondrogenesis: the spectrum of chondrogenesis imperfecta. Pediatr Pathol 8:571–597

  13. 13.

    Weston AD, Ozolins TR, Brown NA (2006) Thoracic skeletal defects and cardiac malformation: a common epigenetic link? Birth Defects Res C Embryo Today 78(4):354–370

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We are grateful to Professor Judy Hall of Vancouver for her guidance and to Professor A. Superti-Furga of Freiburg for his assistance with the diagnostic process. We are grateful for the support from the National Research Foundation and the Medical Research Council of South Africa.

Conflict of interest statement

We declare that we have no conflict of interest.

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Correspondence to Helen Wainwright.

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Wainwright, H., Beighton, P. Visceral manifestations of hypochondrogenesis. Virchows Arch 453, 203–207 (2008). https://doi.org/10.1007/s00428-008-0630-9

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  • Bone dysplasia
  • Cardiac defects
  • Diverticulosis
  • Genetics