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

Morgan DykmanLindsey Marie VollerChristina Boull
Published in: Pediatric dermatology (2022)
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.
Keyphrases
  • case report