KENNY SYNDROME - CASE-REPORT AND LITERATURE-REVIEW

A 34-month-old girl presented with a clinical picture of Kenny syndrom e. The clinical manisfestations included growth retardation, persisten t open anterior fontanelle, prominent forehead, mid-facial dysplasia, hypocalcemic tetany and characteristic radiologic skeletal abnormaliti es. Serum levels of immunoreactive parathyroid hormone (PTH) remained inappropriately low during hypocalcemic episodes in the neonatal perio d, indicating that hypocalcemia was a consequence of the hypoparathyro id state. This is the first reported case of Kenny syndrome in Taiwan. The literature on the pathogenesis, etiology and genetic basis of thi s disorder is reviewed in this paper.