In this issue of Pediatric and Developmental Pathology, Aigner and colleagues report a detailed investigation of cartilage matrix changes in a 14-week fetus with achondrogenesis type IA [1]. The changes reported differ from matrix alterations observed in achondrogenesis types IB or II and provide insight into the phenotypic and genotypic differences within this group of skeletal dysplasias.
Get full access to this article
View all access options for this article.
References
1.
AignerTRauTNiederhagenM. Achondrogenesis type IA (Houston-Harris): a still unresolved molecular phenotype. Pediatr Dev Pathol2007;10:328–334.
2.
van der HartenHJBronsJTDijkstraPF. Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. Pediatr Pathol1988;8:571–597.
3.
RossiASuperti-FurgaA. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat2001;17:159–171.
4.
MortierGRWeisMNuytinckL. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet2000;37:263–271.
5.
YangSSGilbert-BarnessEG. Skeletal System. In: Gilbert-BarnessEG, ed. Potter's Pathology of the Fetus and Infant. St. Louis: Mosby, 1997;1423–1481.
6.
WoodBDimmickJE. Skeletal System. In: DimmickJEKalousekedsDK. Developmental Pathology of the Embryo and Fetus. Philadelphia: J.B. Lippincott, 1992;662–706.
7.
Superti-FurgaA. A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. Am J Hum Genet1994;55:1137–1145.
8.
BorochowitzZLachmanRAdomianGESpearGJonesKRimoinDL. Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. J Pediatr1988;112:23–31.
