title: [X-chromosome dominant chondrodysplasia punctata (Happle) in a boy].
abstract: The case of a newborn boy with ichthyosiform erythroderma, asymmetrical shortening of the femur and sectorial cataract is reported. The hyperkeratotic areas cleared within 2 months, resulting in follicular atrophoderma. The clinical findings and course of the disease, and also the histological and ultrastructural features, indicate an X-linked dominant chondrodysplasia punctata (Happle). Since a normal male karyotype (46, XY) is present, a half-chromatid mutation of the maternal gamete and a somatic mutation are considered as possible explanations for this mosaic phenotype.
authors.affiliation: Klinik für Dermatologie und Venerologie, Medizinische Universität zu Lübeck.
authors.forename: M
authors.initials: M
authors.lastname: Tronnier
authors.forename: U G
authors.initials: UG
authors.lastname: Froster-Iskenius
authors.forename: W
authors.initials: W
authors.lastname: Schmeller
authors.forename: R
authors.initials: R
authors.lastname: Happle
authors.forename: H H
authors.initials: HH
authors.lastname: Wolff
mesh_terms: D001706:Biopsy; D002806:Chondrodysplasia Punctata / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D014960:X Chromosome
vernacular_title: X-chromosomal dominante Chondrodysplasia punctata (Happle) bei einem Knaben.