Kabuki make-up syndrome in a Caucasian
- 1 January 1986
- journal article
- case report
- Published by Taylor & Francis in Ophthalmic Paediatrics and Genetics
- Vol. 7 (2) , 97-100
- https://doi.org/10.3109/13816818609076116
Abstract
A 20-year-old Caucasian female with the Kabuki make-up syndrome had adolescent onset cataracts and delayed sexual maturation with evidence of primary ovarian dysfunction. These features have not been described in other patients with this disorder, all of whom have been younger. This patient also had cystic fibrosis, which may be a fortuitous association.Keywords
This publication has 4 references indexed in Scilit:
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- A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardationThe Journal of Pediatrics, 1981
- Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiencyThe Journal of Pediatrics, 1981
- Cystic fibrosis in adultsThe American Journal of Medicine, 1979