Ectopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a

[摘要] The diagnosis of pseudohypoparathyroidism type 1a (PHP1a) is challenging, because both the osteodystrophy, such as brachydactyly and round face, and the symptomatichypocalcemia usually develop beyond infancy. Although ectopic calcification may bean early sign of PHP1a, there are no systematic reviews regarding the time of itsappearance. We here report on two PHP1a patients who presented with subcutaneouscalcification in neonatal period.

[学科分类] 内分泌与代谢学