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

Morgan Dykman1, Lindsey Marie Voller2, Christina Boull3

  • 1Division of Pediatric Dermatology, Department of Dermatology, University of Minnesota, Minneapolis, Minnesota, USA.

Pediatric Dermatology
|March 31, 2022
PubMed

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.

Keywords:
genetic diseases/mechanismsgenodermatoses

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