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

Morgan Dykman, Lindsey Marie Voller, Christina Boull

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)657-658
Number of pages2
JournalPediatric Dermatology
Volume39
Issue number4
DOIs
StatePublished - Jul 1 2022

Bibliographical note

Funding Information:
We gratefully acknowledge support from the Boeing Company and the National Science Foundation Grants DMI-9900108 (GOALI) andCMS-9625161 (CAREER).

Publisher Copyright:
© 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.

Keywords

  • genetic diseases/mechanisms
  • genodermatoses

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