Literature DB >> 18642028

Visceral manifestations of hypochondrogenesis.

Helen Wainwright1, Peter Beighton.   

Abstract

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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Year:  2008        PMID： 18642028     DOI： 10.1007/s00428-008-0630-9

Source DB:  PubMed          Journal:  Virchows Arch        ISSN： 0945-6317            Impact factor:   4.064


  13 in total

Review 1.  Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.

Authors:  R S Lachman; G E Tiller; J M Graham; D L Rimoin
Journal:  Eur J Radiol       Date:  1992 Jan-Feb       Impact factor: 3.528

2.  Hypochondrogenesis.

Authors:  Marco Castori; Francesco Brancati; Alessandro Castriota Scanderbeg; Bruno Dallapiccola
Journal:  Pediatr Radiol       Date:  2006-01-24

3.  Achondrogenesis.

Authors:  Raj P Kapur
Journal:  Pediatr Dev Pathol       Date:  2007 Jul-Aug

4.  Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases.

Authors:  H J van der Harten; J T Brons; P F Dijkstra; M F Niermeyer; C J Meijer; H P van Giejn; N F Arts
Journal:  Pediatr Pathol       Date:  1988

5.  Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

Authors:  J Körkkö; D H Cohn; L Ala-Kokko; D Krakow; D J Prockop
Journal:  Am J Med Genet       Date:  2000-05-15

Review 6.  Thoracic skeletal defects and cardiac malformations: a common epigenetic link?

Authors:  Andrea D Weston; Terence R S Ozolins; Nigel A Brown
Journal:  Birth Defects Res C Embryo Today       Date:  2006-12

7.  Achondrogenesis type II with polydactyly.

Authors:  M Rittler; I M Orioli
Journal:  Am J Med Genet       Date:  1995-11-06

8.  Jejunal diverticulosis in a family.

Authors:  L P Andersen; B Schjoldager; B Halver
Journal:  Scand J Gastroenterol       Date:  1988-08       Impact factor: 2.423

Review 9.  Cardiac malformation in two infants with hypochondrogenesis.

Authors:  L Potocki; D N Abuelo; C E Oyer
Journal:  Am J Med Genet       Date:  1995-11-20

10.  Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity.

Authors:  Z Borochowitz; A Ornoy; R Lachman; D L Rimoin
Journal:  Am J Med Genet       Date:  1986-06
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