[CHILD syndrome in a mother and daughter].
A 15-year-old girl with the typical signs and symptoms of the CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) is described. Associated ipsilateral anomalies included systematized hypotrichosis, fused vertebrae, hemivertebrae, pelvic hypoplasia and renal agenesis. During a careful inquiry, her mother reported that during her own adolescence she had linear ichthyosiform skin changes localized in 3 different regions of her body. These plaques had disappeared spontaneously in early adulthood, leaving permanent lesions in the form of hairless streaks and a dystrophic fingernail. Hence this is the first report of a mother-to-daughter transmission of this genodermatosis, lending further support to the proposed concept of X-linked dominant inheritance with lethality for male embryos. We conclude that the mother of a girl suffering from the CHILD syndrome cannot be considered to be unaffected unless a meticulous examination of her skin and bones has ruled out even minimal signs of involvement.
Happle
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R
Dermatologische Klinik, der Universität Nijmegen.
Karlić
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D
Steijlen
P M
PM
D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000235:genetics*; D004416:Dysplastic Nevus Syndrome / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D009264:Nails, Malformed / Q000235:genetics*; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014034:Toes / Q000002:abnormalities*; D014960:X Chromosome
CHILD-Syndrom bei Mutter und Tochter.