Importance of PORCN and Wnt signaling pathways in embryogenesis.

摘要

Focal dermal hypoplasia (FDH; Goltz syndrome) (OMIM 305600) is a rare X-linked dominant ecto-mesodermal dysplasia syndrome characterized by linear streaks of hypoplastic dermis, hypo- or hyper-pigmentation and subcutaneous fat herniation occurring along the lines of Blaschko [Goltz et al., 1962]. Patients may also have dystrophic nails, sparse hair, hypodontia, mental retardation, and ocular abnormalities including colobomas and microphthal-mia. Skeletal defects such as limb hypoplasia, syndactyly, and ectrodactyly are commonly observed and affected individuals may develop striated areas of reduced bone density which is visible on radiographs of long bones (osteopathia striata).