[X-chromosome dominant chondrodysplasia punctata (Happle) in a boy].
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.
Tronnier
M
M
Klinik für Dermatologie und Venerologie, Medizinische Universität zu Lübeck.
Froster-Iskenius
U G
UG
Schmeller
W
W
Happle
R
R
Wolff
H H
HH
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
X-chromosomal dominante Chondrodysplasia punctata (Happle) bei einem Knaben.