Kenny syndrome: case report and literature review

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