Kabuki syndrome: a review study of three hundred patients

MW Wessels, AS Brooks, J Hoogeboom… - Clinical …, 2002 - journals.lww.com
The Kabuki (make-up) syndrome identified in 1981 has been reported in more than three
hundred patients. Typical findings include mild to moderate mental retardation, fetal pads …

Patellar dislocation in Kabuki syndrome

K Kurosawa, H Kawame, Y Ochiai… - American journal of …, 2002 - Wiley Online Library
We describe four individuals (two females and two males) with Kabuki syndrome and
recurrent dislocation of the patella. The age of diagnosis of patellar dislocation ranged from …

Kabuki syndrome and growth hormone deficiency: description of a case treated by long-term hormone replacement

O Gabrielli, S Bruni, B Bruschi, I Carloni… - Clinical …, 2002 - journals.lww.com
We describe a case of Kabuki syndrome associated with GH deficiency and report the first
data regarding growth velocity during replacement therapy over a sufficiently long follow-up …

Neonatal syndromes of polyendocrinopathy

F Dotta, F Vendrame - Endocrinology and Metabolism Clinics, 2002 - endo.theclinics.com
Several studies have clearly indicated that fetal and newborn mammals have a limited ability
to mount an immune system response, both qualitatively and quantitatively. Consequently …