A case of Kabuki make‐up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction
- 1 August 1994
- journal article
- case report
- Published by Wiley in Pediatrics International
- Vol. 36 (4) , 412-415
- https://doi.org/10.1111/j.1442-200x.1994.tb03212.x
Abstract
A case of a 6 year old boy with Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction is reported. Magnetic resonance imaging revealed abnormal findings of the pituitary gland and stalk. Good catch-up growth was obtained by treatment with growth hormone. These findings suggest that hypothalamic-pituitary dysfunction might be involved in Kabuki make-up syndrome.Keywords
This publication has 20 references indexed in Scilit:
- Anorectal anomalies associated with Kabuki make-up syndromeJournal of Pediatric Surgery, 1992
- Kabuki make-up (Niikawa-Kuroki) syndrome: Clinical and radiological observations in two sicilian childrenPediatric Radiology, 1991
- Kabuki make‐up (Niikawa‐Kuroki) syndrome: A study of 62 patientsAmerican Journal of Medical Genetics, 1988
- Precocious puberty in Kabuki makeup syndromeThe Journal of Pediatrics, 1987
- Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in EuropeThe Journal of Pediatrics, 1984
- Growth hormone neurosecretory dysfunction. A treatable cause of short statureJAMA, 1984
- Niikawa-Kuroki syndrome: A new malformation syndrome of postnatal dwarfism, mental retardation, unusual face, and protruding earsThe Journal of Pediatrics, 1982
- 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
- RADIOGRAPHIC ATLAS OF SKELETAL DEVELOPMENT OF THE HAND AND WRISTThe Lancet Healthy Longevity, 1959