1 results match your criteria: "Center of Medical Genetics. Tzu-Chi Buddhist General Hospital[Affiliation]"
J Formos Med Assoc
October 1996
Center of Medical Genetics. Tzu-Chi Buddhist General Hospital, Hua-Lien, Taiwan, ROC.
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.
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