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)|
|Number of pages||2|
|State||Published - Jul 1 2022|
Bibliographical noteFunding Information:
We gratefully acknowledge support from the Boeing Company and the National Science Foundation Grants DMI-9900108 (GOALI) andCMS-9625161 (CAREER).
© 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.
- genetic diseases/mechanisms