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 language | English (US) |
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Pages (from-to) | 657-658 |
Number of pages | 2 |
Journal | Pediatric Dermatology |
Volume | 39 |
Issue number | 4 |
DOIs | |
State | Published - 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