Article
[The clinical spectrum of focal dermal hypoplasia].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - 1 Nov 1995
Skaria A, Feldmann R, Hauser C
Abstract excerpt
Focal dermal hypoplasia (FHD) is an X chromosomal dominant inherited disease with unknown gene defect. FDH is characterized by ectodermal and mesodermal malformations. It is thought to be lethal in males; however, males may survive as mosaics or possibly as Klinefelter syndrome (XXY). When mosaic...
Topics
- Adolescent
- Child
- Female
- Focal Dermal Hypoplasia
- Genes, Dominant
- Genetic Carrier Screening
- Humans
- Klinefelter Syndrome
- Male
- Middle Aged
- Mosaicism
- Phenotype
- Sex Chromosome Aberrations
- Skin
- X Chromosome