Conradi-Hünermann-Happle syndrome associated with severe hypocalcemia in a newborn.

Abstract

Conradi–Hünermann–Happle syndrome is rare X‐linked dominant syndrome associated with stippled epiphyseal calcifications, congenital cataracts, Blaschkoid ichthyosiform scaling, and follicular atrophoderma. This case describes a novel finding of hypocalcemia and hypoparathyroidism in an infant with Conradi–Hünermann–Happle syndrome.